HNF1 homeobox B
Última actualización 25 Jul 2023
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El HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β). This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. Based on this role, the protein is called a transcription factor. The HNF-1β protein is one of a large group of transcription factors called homeodomain proteins. The homeodomain is a region of the protein that allows it to bind to DNA.
Normal function
El HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β). This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. Based on this role, the protein is called a transcription factor. The HNF-1β protein is one of a large group of transcription factors called homeodomain proteins. The homeodomain is a region of the protein that allows it to bind to DNA.
The HNF-1β protein is found in many organs and tissues, including the lungs, liver, intestines, pancreas, kidneys, genital tract, and urinary tract and is thought to play a role in their development. The HNF-1β protein is important for development and function of the kidneys and 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.
Conditions referring to this gene or chromosome
Otros nombres
FJHN
hepatocyte nuclear factor 1B
HNF-1-beta
HNF-1B
HNF1 beta A
HNF1beta
HNF2
homeoprotein LFB3
HPC11
LF-B3
LFB3
TCF-2
TCF2
transcription factor 2, hepatic
VHNF1
Lecturas adicionales y referencias
- HNF1 homeobox B; MedlinePlus, National Library of Medicine.
- Bockenhauer D, Jaureguiberry G. HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol. 2016 May;31(5):707-14. doi: 10.1007/s00467-015-3142-2. Epub 2015 Jul 8.
- Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl). 2010 Nov;123(22):3326-33.
- Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int. 2016 Jul;90(1):203-11. doi: 10.1016/j.kint.2016.03.027. Epub 2016 May 24.
- El-Khairi R, Vallier L. The role of hepatocyte nuclear factor 1beta in disease and development. Diabetes Obes Metab. 2016 Sep;18 Suppl 1:23-32. doi: 10.1111/dom.12715.
- Ferre S, Igarashi P. New insights into the role of HNF-1beta in kidney (patho)physiology. Pediatr Nephrol. 2019 Aug;34(8):1325-1335. doi: 10.1007/s00467-018-3990-7. Epub 2018 Jul 1.
- Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010 Jun;5(6):1079-90. doi: 10.2215/CJN.06810909. Epub 2010 Apr 8.
- Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D, Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C, Bahans C, Yardin C, Lacombe D, Guigonis V. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child. 2015 Mar;100(3):259-64. doi: 10.1136/archdischild-2014-306810. Epub 2014 Oct 16.
- Madariaga L, Garcia-Castano A, Ariceta G, Martinez-Salazar R, Aguayo A, Castano L; Spanish group for the study of HNF1B mutations. Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. Clin Kidney J. 2018 Nov 13;12(3):373-379. doi: 10.1093/ckj/sfy102. eCollection 2019 Jun.
- Mancusi S, La Manna A, Bellini G, Scianguetta S, Roberti D, Casale M, Rossi F, Della Ragione F, Perrotta S. HNF-1beta mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. J Nephrol. 2013 Jan-Feb;26(1):207-12. doi: 10.5301/jn.5000126.
- Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007 Nov;81(5):1057-69. doi: 10.1086/522591. Epub 2007 Sep 26.
- van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, Hoenderop JG, Vargas Poussou R, de Baaij JH. Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. Am J Nephrol. 2015;42(1):85-90. doi: 10.1159/000439286.
- Verhave JC, Bech AP, Wetzels JF, Nijenhuis T. Hepatocyte Nuclear Factor 1beta-Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am Soc Nephrol. 2016 Feb;27(2):345-53. doi: 10.1681/ASN.2015050544. Epub 2015 Aug 28.
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