IMPDH1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human IMPDH1 wild-type allele is located within 7q31.3-q32 and is approximately 18 kb in length. This allele, which encodes inosine-5'-monophosphate dehydrogenase 1 protein, is involved in de novo synthesis of guanine nucleotides. Defects in the IMPDH1 gene cause autosomal dominant retinitis pigmentosa type 10.

**Synonyms:** - IMP (Inosine Monophosphate) Dehydrogenase 1 wt Allele - IMPD - IMPD1