Primary Identifier | MGI:1347356 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 216725 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables peptidase activity. Acts upstream of or within several processes, including collagen fibril organization; protein processing; and spermatogenesis. Located in extracellular matrix. Is expressed in several structures, including brain and visceral pericardium. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome dermatosparaxis type. Orthologous to human ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2). PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators] |