Gene: TIMM8B

Alternate names for this Gene: DDP2|TIM8B

Gene Summary: This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.1

Description of this Gene: translocase of inner mitochondrial membrane 8 homolog B

Type of Gene: protein-coding

Gene: SDHD

Alternate names for this Gene: CBT1|CII-4|CWS3|PGL|PGL1|QPs3|SDH4|cybS

Gene Summary: This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.1

Description of this Gene: succinate dehydrogenase complex subunit D

Type of Gene: protein-coding

rs80338842 in TIMM8B;SDHD gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 26096992 2015 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

rs104894303 in TIMM8B;SDHD gene and Neoplastic Syndromes, Hereditary PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 12111639 2002 Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 18826997 2008 Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

PMID 27785149 2016 Mediastinal paragangliomas related to SDHx gene mutations.

PMID 25791839 2015 Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

PMID 19072999 2009 Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 11323050 2001 Germline SDHD mutation in familial phaeochromocytoma.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 25741136 2015 Succinate dehydrogenase-deficient gastrointestinal stromal tumors.

PMID 20418362 2010 Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 17804857 2007 Familial gastrointestinal stromal tumors and germ-line mutations.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

rs104894306 in TIMM8B;SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 18211978 2008 Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 18561749 2008 W43X SDHD mutation in sporadic head and neck paraganglioma.

PMID 12111639 2002 Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

PMID 20098451 2010 Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 18826997 2008 Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 19072999 2009 Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

PMID 11323050 2001 Germline SDHD mutation in familial phaeochromocytoma.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

rs104894306 in TIMM8B;SDHD gene and Paragangliomas with Sensorineural Hearing Loss PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 12111639 2002 Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

PMID 20098451 2010 Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

PMID 18561749 2008 W43X SDHD mutation in sporadic head and neck paraganglioma.

PMID 18211978 2008 Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

PMID 18826997 2008 Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 11323050 2001 Germline SDHD mutation in familial phaeochromocytoma.

PMID 19072999 2009 Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

rs104894306 in TIMM8B;SDHD gene and Pheochromocytoma PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

PMID 18211978 2008 Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 18561749 2008 W43X SDHD mutation in sporadic head and neck paraganglioma.

PMID 12111639 2002 Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

PMID 20098451 2010 Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

PMID 18826997 2008 Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 11323050 2001 Germline SDHD mutation in familial phaeochromocytoma.

PMID 19072999 2009 Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.