PPCS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PPCS wild-type allele is located in the vicinity of 1p34.2 and is approximately 17 kb in length. This allele, which encodes phosphopantothenate-cysteine ligase protein, plays a role in the synthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5). Mutations in the gene are associated with dilated cardiomyopathy 2C.

**Synonyms:** - CMD2C - COAB - FLJ11838 - Phosphopantothenoylcysteine Synthetase wt Allele