FBXL4 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FBXL4 wild-type allele is located within 6q16.1-q16.2 and is approximately 79 kb in length. This allele, which encodes F-box/LRR-repeat protein 4, plays a role in the promotion of ubiquitination and the maintenance of mitochondrial DNA. Missense and nonsense mutations in the gene are associated with autosomal recessive mitochondrial DNA depletion syndrome 13.

**Synonyms:** - FBL4 - FBL5 - MTDPS13