PKHD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PKHD1 wild-type allele is located within 6p12.3-p12.2 and is approximately 473 kb in length. This allele, which encodes fibrocystin protein, may play a role in kidney and biliary development and in receptor signaling. Mutations in this gene are associated with autosomal recessive polycystic kidney disease (polycystic kidney and hepatic disease 1; polycystic kidney disease 4).

**Synonyms:** - ARPKD - FCYT - FPC - Fibrocystin/Polyductin Complex Gene - PKD4 - PKHD1, Fibrocystin/Polyductin wt Allele - Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive) Gene - Polycystic Kidney and Hepatic Disease 1 Gene - TIG Multiple Domains 1 Gene - TIGM1