| Primary Identifier | MGI:1924366 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 77116 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; and phosphatidylinositol-3-phosphate phosphatase activity. Acts upstream of or within negative regulation of myelination; nervous system development; and phosphatidylinositol dephosphorylation. Located in vacuolar membrane. Is expressed in several structures, including eye; genitourinary system; gut; immune system; and nervous system. Used to study Charcot-Marie-Tooth disease type 4B1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2). PHENOTYPE: Homozygous null mutants develop progressive neuropathy characterized by myelin outfolding and recurrent loops and depletion of spermatids and spermatocytes from the seminiferous epithelium. [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
