UCN3

Chr 10

urocortin 3

Also known as: SCP, SPC, UCNIII

NCBI Gene: 114131 ENSG00000178473 UniProt: Q969E3

This gene encodes urocortin 3, a peptide hormone secreted by pancreatic beta and alpha cells that regulates insulin secretion in response to glucose levels and suppresses food intake. Mutations cause maturity-onset diabetes of the young type 14 (MODY14), an autosomal dominant form of early-onset diabetes typically presenting in adolescence or young adulthood. The gene shows tolerance to loss-of-function variants, suggesting that complete loss of function may not be the primary disease mechanism in affected patients.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.73

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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