| 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 9.1.0) Enables zinc ion binding activity. Involved in insulin processing. Acts upstream of or within several processes, including insulin receptor signaling pathway; intracellular signal transduction; and positive regulation of intracellular signal transduction. Located in cytosol; nucleus; and secretory granule. Part of sno(s)RNA-containing ribonucleoprotein complex. Is active in extracellular region. 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 mellitus; 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] |