SURF1 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CMT4K - MC4DN1 - SHY1 - SURF-1 - SURF1 Cytochrome C Oxidase Assembly Factor wt Allele - Surfeit 1 Gene