GMPPA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GMPPA wild-type allele is located in the vicinity of 2q35 and is approximately 15 kb in length. This allele, which encodes mannose-1-phosphate guanylyltransferase regulatory subunit alpha protein, is involved in the metabolism of GDP-mannose. Mutations in the gene are associated with alacrima, achalasia, and impaired intellectual development syndrome.

**Synonyms:** - AAMR - GDP-Mannose Pyrophosphorylase A wt Allele - GDP-Mannose Pyrophosphorylase, Alpha Subunit Gene - Mannose-1-Phosphate Guanyltransferase Alpha Gene - Mannose-1-Phosphate Guanylyltransferase (GDP) Gene