FKRP wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FKRP wild-type allele is located in the vicinity of 19q13.32 and is approximately 32 kb in length. This allele, which encodes ribitol 5-phosphate transferase FKRP, is involved in the transfer of ribitol-phosphate certain glycoproteins. Mutations in the gene are associated with FKRP-related congenital muscular dystrophy, Walker-Warburg syndrome and limb-girdle muscular dystrophy type 2I.

**Synonyms:** - FKTR - Fukutin Related Protein wt Allele - LGMD2I - LGMDR9 - MDC1C - MDDGA5 - MDDGB5 - MDDGC5