Primary Identifier | MGI:1333828 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 107993 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation; intermediate filament cytoskeleton organization; and lens fiber cell development. Located in cytoplasm and intermediate filament. Is expressed in lens; olfactory epithelium; and vomeronasal organ. Human ortholog(s) of this gene implicated in cataract and cataract 12 multiple types. Orthologous to human BFSP2 (beaded filament structural protein 2). PHENOTYPE: Mutations at this locus result in eye abnormalities. [provided by MGI curators] |