Primary Identifier | MGI:1921624 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 74374 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in protein destabilization and regulation of proteasomal ubiquitin-dependent protein catabolic process. Acts upstream of or within negative regulation of mitophagy; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of autophagosome maturation. Located in endolysosome membrane. Is expressed in islets of Langerhans. Used to study neurodegenerative disease. Human ortholog(s) of this gene implicated in Addison's disease; multiple sclerosis; rheumatoid arthritis; and type 1 diabetes mellitus. Orthologous to human CLEC16A (C-type lectin domain containing 16A). PHENOTYPE: Homozygotes for a spontaneous mutation have a curved tail, small body size, squinting eyes, crooked digits that curve outward, and premature death. [provided by MGI curators] |