ATP5F1E wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATP5F1E wild-type allele is located in the vicinity of 20q13.32 and is approximately 7 kb in length. This allele, which encodes ATP synthase subunit epsilon, mitochondrial protein, plays a role in ATP biosynthesis. Mutation of the gene is associated with mitochondrial complex V (ATP synthase) deficiency nuclear type 3.

**Synonyms:** - ATP Synthase F1 Subunit Epsilon wt Allele - ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon Subunit Gene - ATP5E - ATP5E wt Allele - ATPE - MC5DN3