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
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
rs587782210 in
SDHD;TIMM8B gene and
Neoplastic Syndromes, Hereditary
PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
rs104894305 in
SDHD;TIMM8B gene and
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.
PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.
PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
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 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.
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?
rs104894305 in
SDHD;TIMM8B gene and
Paragangliomas with Sensorineural Hearing Loss
PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.
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 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
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 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.
PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.
rs104894305 in
SDHD;TIMM8B gene and
Pheochromocytoma
PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.
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 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 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.
PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.