Primary Identifier | MGI:2443583 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 241639 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin filament binding activity. Involved in several processes, including positive regulation of cell adhesion; regulation of gene expression; and regulation of signal transduction. Located in focal adhesion. Is expressed in several structures, including alimentary system; genitourinary system; immune system; lung; and skin. Used to study Kindler syndrome. Human ortholog(s) of this gene implicated in Kindler syndrome; telangiectasis; and vesiculobullous skin disease. Orthologous to human FERMT1 (FERM domain containing kindlin 1). PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality within 5 days of birth, dehydration, detachment of colonic epithelial cells, and colonic inflammation. [provided by MGI curators] |