" /> HNF4A wt Allele - CISMeF





Preferred Label : HNF4A wt Allele;

NCIt synonyms : HNF4a9; HNF4; MODY; TCF-14; NR2A1; FRTS4; Transcription Factor 14, Hepatic Nuclear Factor Gene; TCF14; Hepatic Nuclear Factor 4 Alpha Gene; MODY1; HNF4-Alpha; HNF4a7; HNF4alpha; HNF4a8; Hepatocyte Nuclear Factor 4 Alpha wt Allele;

NCIt definition : Human HNF4A wild-type allele is located in the vicinity of 20q13.12 and is approximately 79 kb in length. This allele, which encodes hepatocyte nuclear factor 4-alpha protein, is involved in transcriptional regulation of hepatic genes. Mutation of the gene is associated with non-insulin dependent diabetes mellitus, maturity-onset diabetes of the young (MODY) 1, and Fanconi renotubular syndrome 4 with MODY.;

NCIt note : Alternative splicing of the HNF4A results in multiple transcript variants encoding at least 9 different isoforms. (EntrezGene and UniProt);

GenBank Accession Number : X76930;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :


Nous contacter.
11/05/2024


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.