| Primary Identifier | MGI:106598 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 17919 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including ATP hydrolysis activity; ionotropic glutamate receptor binding activity; and small GTPase binding activity. Involved in modulation of chemical synaptic transmission. Acts upstream of or within protein transmembrane transport. Located in brush border. Is active in Schaffer collateral - CA1 synapse. Is expressed in central nervous system; genitourinary system; gut; heart; and skeletal muscle. Used to study microvillus inclusion disease. Human ortholog(s) of this gene implicated in microvillus inclusion disease and progressive familial intrahepatic cholestasis. Orthologous to human MYO5B (myosin VB). PHENOTYPE: Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease. [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
