Transcription factor HNF4alpha
The gene encodes a transcription factor, which regulates among others the transcription of HNF1-alpha. When mutated, it causes autosomal dominant MODY1 diabetes and hyperinsulinemic hypoglycemia.
Phenotype
Along with MODY1 the mutation R76W can cause atypical dominant Fanconi syndrome.[Error: Macro 'ref' doesn't exist]
Genetests:
Related Diseases:
References:
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Stanescu DE et al. (2012) Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A.
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2. |
Hamilton AJ et al. (2014) The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
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3. |
Eeckhoute J et al. (2001) Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator.
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4. |
Barrio R et al. (2002) Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
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5. |
Pearson ER et al. (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
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6. |
None (1989) Maturity-onset diabetes of the young (MODY).
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7. |
Yamagata K et al. (1996) Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
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8. |
Lindner T et al. (1997) Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
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9. |
Furuta H et al. (1997) Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.
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10. |
Hani EH et al. (1998) A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.
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11. |
Møller AM et al. (1999) A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young.
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12. |
NCBI article
NCBI 3172
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13. |
OMIM.ORG article
Omim 600281
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14. |
Orphanet article
Orphanet ID 122455
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15. |
Wikipedia article
Wikipedia EN (Hepatocyte_nuclear_factor_4_alpha)
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Update: Aug. 14, 2020