| Primary Identifier | MGI:104809 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 102502 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity. Involved in several processes, including inner ear receptor cell stereocilium organization; intestinal D-glucose absorption; and positive regulation of protein localization to plasma membrane. Acts upstream of or within terminal web assembly. Located in brush border; stereocilium; and terminal web. Is expressed in egg cylinder; female reproductive system; and gut. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 76. Orthologous to human PLS1 (plastin 1). PHENOTYPE: Homozygous inactivation for this gene leads to altered intestinal morphology and physiology, increased brush border fragility and susceptibility to induced colitis, as well as a moderate and progressive form of hearing loss associated with defects in stereocilia morphology. [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
