POMK wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POMK wild-type allele is located in the vicinity of 8p11.21 and is approximately 38 kb in length. This allele, which encodes protein O-mannose kinase protein, is involved in the regulation of the glycosylation of alpha-dystroglycan. Mutations in the gene are associated with muscular dystrophy-dystroglycanopathy (MDDG) limb-girdle type C12 and MDDG congenital with brain and eye anomalies type A12.

**Synonyms:** - FLJ23356 - MDDGA12 - MDDGC12 - Protein O-Mannose Kinase wt Allele - SGK196 - SgK196