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  Domain Name: HNF-1A_C
Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus. This family consists of an alternative C terminus of homeobox-containing transcription factor HNF-1, found in the HNF-1A isoform. Different isoforms of HNF-1 are generated by the differential use of polyadenylation sites and by alternative splicing. The C-terminal region of HNF-1 is responsible for the activation of transcription, and HNF-1A, which has this C-terminal extension, transactivates less well than the B and C isoforms. Mutations and polymorphisms in HNF-1 cause the type 3 form of maturity-onset diabetes of the young (MODY3).
No pairwise interactions found for the domain HNF-1A_C

Total Mutations Found: 5
Total Disease Mutations Found: 3
This domain occurred 1 times on human genes (2 proteins).



  DIABETES MELLITUS, INSULIN-DEPENDENT, 20
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for HNF-1A_C







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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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