Primary Identifier | MGI:97512 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 18549 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Involved in nervous system development and protein processing. Acts upstream of or within proteolysis. Located in extracellular space. Is active in secretory granule. Is expressed in brain; endocrine gland; future brain; and gut. Human ortholog(s) of this gene implicated in myocardial infarction and type 2 diabetes mellitus. Orthologous to human PCSK2 (proprotein convertase subtilisin/kexin type 2). PHENOTYPE: Mice homozygous for disruptions of this gene display abnormalities in the maturation of peptide hormones leading to reduced female fertility, increased blood pressure on a high salt diet, and abnormal glucose metabolism. [provided by MGI curators] |