Entrez gene ID | | 4952 |
Official gene symbol | | OCRL |
Full name | | oculocerebrorenal syndrome of Lowe |
Aliases | | ,INPP5F,LOCR,NPHL2,OCRL1, |
Gene summary | | This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq25-q26.1 |
Gene position | | 128674252 - 128726533 Map Viewer |
Gene orientation | | plus |
Gene size | | 52282 bp |
Gene sequence |
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OMIM ID | | 300535 |