HNF1 homeobox A
Última actualización 19 Jul 2023
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El HNF1A gene provides instructions for making a protein called hepatocyte nuclear factor-1 alpha (HNF-1α). The HNF-1α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. While this protein is found in several tissues and organs, it seems to be especially important in the pancreas and liver.
Normal function
El HNF1A gene provides instructions for making a protein called hepatocyte nuclear factor-1 alpha (HNF-1α). The HNF-1α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. While this protein is found in several tissues and organs, it seems to be especially important in the pancreas and liver.
Regulation of gene activity by the HNF-1α protein is critical for the growth and development of beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin. Insulin helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. The HNF-1α protein also controls genes involved in liver development. By controlling genes that regulate cell growth and survival, the HNF-1α protein is thought to act as a tumour suppressor, which means that it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.
The structure of HNF-1α includes several important regions that help it carry out its functions. One of the regions, called the dimerization domain, is critical for protein interactions. This region allows HNF-1α proteins to interact with each other or with other proteins that have a similar structure, creating a two-protein unit (dimer) that functions as a transcription factor. Another region, known as the DNA binding domain, binds to specific areas of DNA, allowing the dimer to control gene activity.
Conditions referring to this gene or chromosome
Otros nombres
HNF1 Homeobox A Gene
LFB1
TCF1
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Lecturas adicionales y referencias
- HNF1 homeobox A; MedlinePlus, National Library of Medicine.
- Balamurugan K, Bjorkhaug L, Mahajan S, Kanthimathi S, Njolstad PR, Srinivasan N, Mohan V, Radha V. Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. Clin Genet. 2016 Dec;90(6):486-495. doi: 10.1111/cge.12757. Epub 2016 Mar 4.
- Bluteau O, Jeannot E, Bioulac-Sage P, Marques JM, Blanc JF, Bui H, Beaudoin JC, Franco D, Balabaud C, Laurent-Puig P, Zucman-Rossi J. Bi-allelic inactivation of TCF1 in hepatic adenomas. Nat Genet. 2002 Oct;32(2):312-5. doi: 10.1038/ng1001. Epub 2002 Sep 23.
- Fu J, Wang T, Zhai X, Xiao X. Primary hepatocellular adenoma due to biallelic HNF1A mutations and its co-occurrence with MODY 3: case-report and review of the literature. Endocrine. 2020 Mar;67(3):544-551. doi: 10.1007/s12020-019-02138-x. Epub 2019 Nov 21.
- Haliyur R, Tong X, Sanyoura M, Shrestha S, Lindner J, Saunders DC, Aramandla R, Poffenberger G, Redick SD, Bottino R, Prasad N, Levy SE, Blind RD, Harlan DM, Philipson LH, Stein RW, Brissova M, Powers AC. Human islets expressing HNF1A variant have defective beta cell transcriptional regulatory networks. J Clin Invest. 2019 Jan 2;129(1):246-251. doi: 10.1172/JCI121994. Epub 2018 Dec 3.
- Malikova J, Kaci A, Dusatkova P, Aukrust I, Torsvik J, Vesela K, Kankova PD, Njolstad PR, Pruhova S, Bjorkhaug L. Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa051. doi: 10.1210/clinem/dgaa051.
- Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjorkhaug L, Njolstad PR. Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population. Diabetes. 2017 Feb;66(2):335-346. doi: 10.2337/db16-0460. Epub 2016 Nov 29.
- Yamagata K. Roles of HNF1alpha and HNF4alpha in pancreatic beta-cells: lessons from a monogenic form of diabetes (MODY). Vitam Horm. 2014;95:407-23. doi: 10.1016/B978-0-12-800174-5.00016-8.
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