Primary Identifier | MGI:108088 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14388 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling adaptor activity. Involved in epidermal growth factor receptor signaling pathway; positive regulation of blood vessel endothelial cell migration; and vascular endothelial growth factor signaling pathway. Acts upstream of or within several processes, including cell surface receptor signaling pathway; labyrinthine layer development; and positive regulation of MAP kinase activity. Located in cytoplasm. Is active in cell cortex. Is expressed in several structures, including brain; gonad; gut; hemolymphoid system gland; and inner ear. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 26. Orthologous to human GAB1 (GRB2 associated binding protein 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit developmental defects in the placenta, heart, eye, muscle, and skin, and die between embryonic day 13.5 and 18.5. [provided by MGI curators] |