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The official name of this gene is “HNF1 homeobox A.”
HNF1A is the gene's official symbol. The HNF1A gene is also known by other names, listed below.
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.
Hepatic adenomas familial (HEPAF): Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). The disease is caused by mutations affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the development of some hepatocellular carcinomas.
Maturity-onset diabetes of the young 3 (MODY3): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by mutations affecting the gene represented in this entry.
Diabetes mellitus, insulin-dependent, 20 (IDDM20): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variations affecting the gene represented in this entry.
|142330 (http://omim.org/entry/142330)||HEPATIC ADENOMAS, FAMILIAL|
|600496 (http://omim.org/entry/600496)||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3|
|612520 (http://omim.org/entry/612520)||DIABETES MELLITUS, INSULIN-DEPENDENT, 20|
|222100 (http://omim.org/entry/222100)||DIABETES MELLITUS, INSULIN-DEPENDENT|
|125853 (http://omim.org/entry/125853)||DIABETES MELLITUS, NONINSULIN-DEPENDENT|
|144700 (http://omim.org/entry/144700)||RENAL CELL CARCINOMA, NONPAPILLARY|
|142410 (http://omim.org/entry/142410)||HNF1 HOMEOBOX A|
Cytogenetic Location: 12q24.2
Molecular Location on chromosome 12: base pairs 120,977,786 to 121,002,511
The HNF1A gene is located on the long (q) arm of chromosome 12 at position 24.2.
More precisely, the HNF1A gene is located from base pair 120,977,786 to base pair 121,002,511 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about HNF1A helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; autosomal ; autosomal dominant ; benign ; bile ; carcinoma ; cell ; diabetes ; diabetes mellitus ; epithelial ; familial ; gene ; glucose ; glycogen ; hepatic ; homeostasis ; hyperglycemia ; inheritance ; insulin ; isoforms ; mode of inheritance ; pancreatic ; polydipsia ; polyphagia ; polyuria ; protein ; renal ; secretion ; splicing ; sporadic ; susceptibility ; tissue ; transcript ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.