Protein-coding gene in the species Homo sapiens
OCRL Identifiers Aliases OCRL , LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase, OCRL inositol polyphosphate-5-phosphatase, INPP5F, Dent-2, DENT2External IDs OMIM : 300535 ; MGI : 109589 ; HomoloGene : 233 ; GeneCards : OCRL ; OMA :OCRL - orthologs Wikidata
Inositol polyphosphate 5-phosphatase OCRL-1 , also known as Lowe oculocerebrorenal syndrome protein , is an enzyme encoded by the OCRL gene located on the X chromosome in humans.[ 5]
This gene encodes an inositol polyphosphate 5-phosphatase. The responsible gene locus is at Xq26.1. This phosphatase enzyme is in part responsible for regulating membrane trafficking actin polymerization, and is located in several subcellular parts of the trans-Golgi network.
Deficiencies in OCRL-1 may cause with oculocerebrorenal syndrome [ 6] and also have been linked to Dent's disease .[ 7] [ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000122126 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001173 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Entrez Gene: oculocerebrorenal syndrome of Lowe" .
^ Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes". Am. J. Med. Genet . 77 (5): 348–55. doi :10.1002/(SICI)1096-8628(19980605)77:5<348::AID-AJMG2>3.0.CO;2-J . PMID 9632163 .
^ Online Mendelian Inheritance in Man (OMIM): 300555
^ Hoopes RR, Shrimpton AE, Knohl SJ, et al. (February 2005). "Dent Disease with mutations in OCRL1" . Am. J. Hum. Genet . 76 (2): 260–7. doi :10.1086/427887 . PMC 1196371 . PMID 15627218 .