Primary Identifier | MGI:88561 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 13030 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type endopeptidase activity. Involved in proteolysis involved in protein catabolic process; symbiont entry into host cell; and thyroid hormone generation. Acts upstream of or within decidualization. Located in external side of plasma membrane; extracellular space; and lysosome. Is expressed in several structures, including extraembryonic component; eye; limb interdigital region; long bone; and metanephros. Human ortholog(s) of this gene implicated in diabetes mellitus. Orthologous to human CTSB (cathepsin B). PHENOTYPE: Homozygotes for targeted null mutations are born normal without gross abnormalities. Homozygous mutant has resistance to induced pancreatitis. In combination with Ctsltm1Cptr, double homozygous mutant shows postnatal lethality due to wide neuronal degeneration in brain. [provided by MGI curators] |