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

rs782061187 in SURF1 gene and Dysmorphic features PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

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

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

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

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

rs121918657 in SURF1 gene and Leigh Disease PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 10636738 1999 Leigh syndrome transmitted by uniparental disomy of chromosome 9.

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

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

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

PMID 10647889 1999 Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

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

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

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

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

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 25629267 2014 Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

PMID 24027061 2013 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

PMID 16542579 2006 Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

PMID 12515039 2002 [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

PMID 27896082 2014 A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

PMID 16326995 2006 Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

PMID 18583168 2009 High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

PMID 21611066 2011 Leigh syndrome: MRI findings in two children.

PMID 22310368 2012 Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

PMID 26341968 2015 Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 10558868 1999 SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

PMID 24462369 2014 A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

PMID 14557577 2003 SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.

rs782061187 in SURF1 gene and Movement Disorders PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

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

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

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

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

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

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

rs782316919 in SURF1 gene and Muscle hypotonia PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

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

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

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

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

rs782190413 in SURF1 gene and SURF1-related Charcot-Marie-Tooth disease type 4 PMID 24027061 2013 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.