Primary Identifier | MGI:1929076 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 56213 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type peptidase activity. Involved in proteolysis. Acts upstream of or within chorionic trophoblast cell differentiation; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and placenta development. Located in collagen-containing extracellular matrix. Is expressed in several structures, including brain; genitourinary system; heart; limb; and sensory organ. Human ortholog(s) of this gene implicated in CADASIL (multiple); gastrointestinal system cancer (multiple); hypertension; lung adenocarcinoma; and macular degeneration (multiple). Orthologous to human HTRA1 (HtrA serine peptidase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. [provided by MGI curators] |