Primary Identifier | MGI:109442 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 241226 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable integrin binding activity. Involved in several processes, including positive regulation of transcription by RNA polymerase II; smooth muscle cell differentiation; and smooth muscle tissue development. Acts upstream of or within several processes, including inner ear morphogenesis; memory; and positive regulation of transforming growth factor beta receptor signaling pathway. Located in apical part of cell. Is expressed in several structures, including alimentary system; brain; genitourinary system; inner ear; and intraembryonic coelom. Human ortholog(s) of this gene implicated in end stage renal disease; ovarian cancer; renal agenesis; and schizophrenia. Orthologous to human ITGA8 (integrin subunit alpha 8). PHENOTYPE: Mice homozygous for disruptions in this gene usually die by the end of the second day after birth. Those that do survive have reduced kidneys and abnormal steriocilia in the inner ear. [provided by MGI curators] |