SURF1 SURF1 cytochrome c oxidase assembly factor
Gene ID: 6834, updated on 19-Sep-2024Gene type: protein coding
Also known as: SHY1; CMT4K; MC4DN1
- See all available tests in GTR for this gene
- Go to complete Gene record for SURF1
- Go to Variation Viewer for SURF1 variants
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
Genomic context
- Location:
- 9q34.2
- Sequence:
- Chromosome: 9; NC_000009.12 (133351758..133356487, complement)
- Total number of exons:
- 9
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SURF1 database
- Variation ViewerRelated Variants
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