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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

HNF1A

The information on this page was automatically extracted from online scientific databases.

What is the official name of the HNF1A gene?

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.

What is the normal function of the HNF1A gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6927):

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. [provided by RefSeq, Mar 2009]

From UniProt (http://www.uniprot.org/uniprot/P20823):

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'.

How are changes in the HNF1A gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the HNF1A gene:
  • congenital hyperinsulinism
  • type 1 diabetes
UniProt (http://www.uniprot.org/uniprot/P20823) provides the following information about the HNF1A gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6927) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the HNF1A gene.
  • Diabetes mellitus type 1
  • Diabetes mellitus type 2
  • Diabetes mellitus, insulin-dependent, 20
  • Hepatic adenomas, familial
  • Maturity-onset diabetes of the young, type 3
  • Renal cell carcinoma, nonpapillary
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the HNF1A gene and its association with health conditions.
OMIM
Number
Title

Where is the HNF1A gene located?

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.

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.

Where can I find additional information about HNF1A?

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.

What other names do people use for the HNF1A gene or gene products?

  • HNF1
  • HNF-1A
  • IDDM20
  • LFB1
  • MODY3
  • TCF1
  • TCF-1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding HNF1A?

autosomal ; autosomal dominant ; benign ; bile ; carcinoma ; cell ; diabetes ; diabetes mellitus ; epithelial ; familial ; gene ; glucose ; glycogen ; hepatic ; homeostasis ; hyperglycemia ; inheritance ; insulin ; mode of inheritance ; pancreatic ; polydipsia ; polyphagia ; polyuria ; protein ; renal ; secretion ; sporadic ; susceptibility ; tissue ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.

 
Published: April 13, 2015