Primary Identifier | MGI:105376 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 11502 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SH3 domain binding activity; metalloendopeptidase activity; and protein kinase C binding activity. Involved in several processes, including membrane protein ectodomain proteolysis; positive regulation of membrane protein ectodomain proteolysis; and transforming growth factor beta receptor signaling pathway. Located in cytoplasm; external side of plasma membrane; and extracellular space. Is expressed in foregut-midgut junction. Used to study cone-rod dystrophy 9. Human ortholog(s) of this gene implicated in cone-rod dystrophy 9. Orthologous to human ADAM9 (ADAM metallopeptidase domain 9). PHENOTYPE: Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium. [provided by MGI curators] |