" /> OCRL wt Allele - CISMeF





Preferred Label : OCRL wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1926374;

GenBank Accession Number : U57627;

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07/05/2025


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