Gene Symbol | INS |
Entrez Gene ID | 3630 |
Full Name | insulin |
Synonyms | IDDM,IDDM1,IDDM2,ILPR,IRDN,MODY10 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. |
Disorder MIM: | |
Disorder Html: | Hyperproinsulinemia, 616214 (3); Maturity-onset diabetes of the young, type 10, 613370 (3); Diabetes mellitus, permanent neonatal, 606176 (3); Diabetes mellitus, insulin-dependent, 2, 125852 (3) |