SURF1 SURF1 cytochrome c oxidase assembly factor

Gene ID: 6834, updated on 19-Sep-2024
Gene type: protein coding
Also known as: SHY1; CMT4K; MC4DN1

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Charcot-Marie-Tooth disease type 4K MedGen: C4225246OMIM: 616684GeneReviews: Not available	See labs
Mitochondrial complex IV deficiency, nuclear type 1 MedGen: C5435656OMIM: 220110GeneReviews: Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview	See labs

Genomic context

Location:: 9q34.2

Sequence:: Chromosome: 9; NC_000009.12 (133351758..133356487, complement)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SURF1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SURF1 database
Variation Viewer
Related Variants

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