OCRL wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OCRL wild-type allele is located in the vicinity of Xq26.1 and is approximately 53 kb in length. This allele, which encodes inositol polyphosphate 5-phosphatase OCRL protein, plays a role in the removal of 5-phosphate groups from various phosphoinositol compounds. Mutations in the gene are associated with Dent disease 2 and oculocerebrorenal syndrome of Lowe.

**Synonyms:** - DENT2 - Dent Disease 2 Gene - Dent-2 - INPP5F - LOCR - NPHL2 - NPHL2-1 - OCRL Inositol Polyphosphate-5-Phosphatase wt Allele - OCRL-1 - OCRL1 - Oculocerebrorenal Syndrome of Lowe Gene - Phosphatidylinositol Polyphosphate 5-Phosphatase Gene