ALDH4A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ALDH4A1 wild-type allele is located in the vicinity of 1p36.13 and is approximately 31 kb in length. This allele, which encodes delta-1-pyrroline-5-carboxylate dehydrogenase protein, mitochondrial, plays a role in glutamate synthesis. Mutation of the gene is associated with type II hyperprolinemia.

**Synonyms:** - ALDH4 - Aldehyde Dehydrogenase 4 Family Member A1 wt Allele - Aldehyde Dehydrogenase 4 Family, Member A1 Gene - P5CD - P5CDH - P5CDh