| Primary Identifier | MGI:101770 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 12075 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation and lens fiber cell development. Located in cytoplasm; intermediate filament; and plasma membrane. Is expressed in several structures, including eye and male reproductive gland or organ. Human ortholog(s) of this gene implicated in cataract 33. Orthologous to human BFSP1 (beaded filament structural protein 1). PHENOTYPE: Mutations in this gene produce lens abnormalities progressing to cataracts. [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
