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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). |
Lu S et al.(2020). "CDD/SPARCLE: the conserved domain database in 2020.",