SURF1 wt Allele

Preferred Label : SURF1 wt Allele;

NCIt synonyms : SHY1; SURF-1; CMT4K; MC4DN1; Surfeit 1 Gene; SURF1 Cytochrome C Oxidase Assembly Factor wt Allele;

NCIt definition : Human SURF1 wild-type allele is located in the vicinity of 9q34.2 and is approximately 5 kb in length. This allele, which encodes surfeit locus protein 1, plays a role in cytochrome c oxidase assembly. Mutations in the gene are associated with Charcot-Marie-Tooth disease 4K and nuclear mitochondrial complex IV deficiency 1.;

GenBank Accession Number : NM_003172;

Details

Origin ID

C208169;

OMIM relation
- Surfeit 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

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