Insulin promoter factor 1
The gene encodes a transcription activator for several genes involved in development and function of the endocrine pancreas. Mutations cause autosomal dominant diabetes MODY4. Pancreatic agenesis 1 with exocrine and endocrine pancreatic secretion and permanent neonatal diabetes mellitus is an autosomal recessive disorder.
Genetests:
Related Diseases:
References:
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Wright NM et al. (1993) Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.
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Stoffers DA et al. (1997) Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.
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Schwitzgebel VM et al. (2003) Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
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Macfarlane WM et al. (1999) Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
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Hani EH et al. (1999) Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.
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Cockburn BN et al. (2004) Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.
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7. |
Stoffers DA et al. (1998) Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein.
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Orphanet article
Orphanet ID 124173
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NCBI article
NCBI 3651
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OMIM.ORG article
Omim 600733
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Wikipedia article
Wikipedia EN (PDX1)
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Update: Aug. 14, 2020