| Primary Identifier | MGI:109589 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 320634 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within in utero embryonic development and phosphatidylinositol dephosphorylation. Predicted to be located in several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Predicted to be active in cytoplasm and membrane. Is expressed in several structures, including genitourinary system; liver; maxillary process; musculature; and spleen. Human ortholog(s) of this gene implicated in Dent disease and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase). PHENOTYPE: Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
