| Primary Identifier | MGI:2143585 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 103199 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Acts upstream of or within several processes, including negative regulation of myelination; nervous system development; and phosphatidylinositol metabolic process. Predicted to be located in endosome membrane; lipid droplet; and recycling endosome. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in nervous system; nucleus pulposus; thymus primordium; and vibrissa. Used to study Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; amyotrophic lateral sclerosis type 11; and bilateral parasagittal parieto-occipital polymicrogyria. Orthologous to human FIG4 (FIG4 phosphoinositide 5-phosphatase). PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen. [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
