Gene: SURF2

Alternate names for this Gene: SURF-2

Gene Summary: This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: surfeit 2

Type of Gene: protein-coding

Gene: SURF1

Alternate names for this Gene: CMT4K|MC4DN1

Gene Summary: This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: SURF1 cytochrome c oxidase assembly factor

Type of Gene: protein-coding

rs863224229 in SURF2;SURF1 gene and Cerebellar Ataxia PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

rs1554768709 in SURF2;SURF1 gene and Dysmorphic features PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

rs863224229 in SURF2;SURF1 gene and Kinetic tremor PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

rs782024654 in SURF2;SURF1 gene and Leigh Disease PMID 10647889 1999 Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 9843204 1998 SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

PMID 22410471 2012 Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

PMID 10746561 2000 Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

PMID 14564068 2001 SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

rs1554768709 in SURF2;SURF1 gene and Movement Disorders PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

rs863224229 in SURF2;SURF1 gene and Pediatric failure to thrive PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.