PMM2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PMM2 wild-type allele is located in the vicinity of 16p13.2 and is approximately 74 kb in length. This allele, which encodes phosphomannomutase 2 protein, plays a role in the synthesis of nucleotide sugars. Mutation of the gene is associated with congenital disorder of glycosylation 1a.

**Synonyms:** - CDG1 - CDG1a - CDGS - Congenital Disorder of Glycosylation, Type Ia Gene - Mannose-6-Phosphate Isomerase Gene - PMI - PMI1 - PMM 2 - Phosphomannomutase 2 wt Allele - Phosphomannose Isomerase 1 Gene