HMBS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HMBS wild-type allele is located in the vicinity of 11q23.3 and is approximately 9 kb in length. This allele, which encodes porphobilinogen deaminase protein, is involved in the heme biosynthesis pathway. Loss of function mutations in the gene are associated with acute intermittent porphyria and porphyria-related encephalopathy and leukoencephalopathy.

**Synonyms:** - ENCEP - Hydroxymethylbilane Synthase wt Allele - LENCEP - PBG-D - PBGD - PORC - Porphyria, Acute; Chester Type Gene - UPS - Uroporphyrinogen I Synthase Gene - Uroporphyrinogen I Synthetase Gene