Primary Identifier | MGI:96573 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 16334 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables zinc ion binding activity. Involved in insulin processing. Acts upstream of with a positive effect on receptor internalization. Acts upstream of or within several processes, including intracellular signal transduction; positive regulation of intracellular signal transduction; and positive regulation of phosphorylation. Located in cytosol; nucleus; and secretory granule. Part of sno(s)RNA-containing ribonucleoprotein complex. Is active in extracellular space. Is expressed in several structures, including brain; extraembryonic component; gut; immune system; and testis. Used to study maturity-onset diabetes of the young; neonatal diabetes; permanent neonatal diabetes mellitus; type 1 diabetes mellitus; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in diabetic retinopathy; glucose metabolism disease (multiple); insulinoma; and pancreatic cancer. Orthologous to human INS (insulin). PHENOTYPE: Mice homozygous for spontaneous or knock-out alleles exhibit increased mortality, abnormal growth, abnormal glucose homeostasis, impaired pancreatic function, and phenotypes associated with type 2 diabetes. [provided by MGI curators] |