FKTN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FKTN wild-type allele is located in the vicinity of 9q31.2 and is approximately 96 kb in length. This allele, which encodes ribitol-5-phosphate transferase FKTN protein, plays a role in the maturation of O-linked glycans. Mutation of the gene is associated with Fukuyama-type congenital muscular dystrophy, Walker-Warburg syndrome, limb-girdle muscular dystrophy type 2M and dilated cardiomyopathy type 1X.

**Synonyms:** - CMD1X - FCMD - Fukutin wt Allele - Fukuyama Type Congenital Muscular Dystrophy (Fukutin) Gene - LGMD2M - LGMDR13 - MDDGA4 - MDDGB4 - MDDGC4