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GTF2IRD1

GTF2IRD1

Reviewed March 2008

What is the official name of the GTF2IRD1 gene?

The official name of this gene is “GTF2I repeat domain containing 1.”

GTF2IRD1 is the gene's official symbol. The GTF2IRD1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the GTF2IRD1 gene?

The GTF2IRD1 gene provides instructions for making a protein that regulates the activity of many other genes. This protein probably interacts with specific regions of DNA and with other proteins to turn genes on or off. Based on this role, the GTF2IRD1 protein is called a transcription factor.

Although its exact function is unknown, the GTF2IRD1 gene is active in many of the body's tissues. It appears to be particularly important for gene regulation in the brain and in muscles used for movement (skeletal muscles). Studies suggest that this gene also plays a role in the development of tissues in the bones and face (craniofacial development).

How are changes in the GTF2IRD1 gene related to health conditions?

Williams syndrome - associated with the GTF2IRD1 gene

The GTF2IRD1 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with this condition are missing one copy of the GTF2IRD1 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the distinctive facial features, dental abnormalities, and problems with visual-spatial tasks such as writing and drawing. Researchers are investigating how a deletion of this gene may be related to these specific features.

Where is the GTF2IRD1 gene located?

Cytogenetic Location: 7q11.23

Molecular Location on chromosome 7: base pairs 74,453,789 to 74,602,604

The GTF2IRD1 gene is located on the long (q) arm of chromosome 7 at position 11.23.

The GTF2IRD1 gene is located on the long (q) arm of chromosome 7 at position 11.23.

More precisely, the GTF2IRD1 gene is located from base pair 74,453,789 to base pair 74,602,604 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about GTF2IRD1?

You and your healthcare professional may find the following resources about GTF2IRD1 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 GTF2IRD1 gene or gene products?

  • CREAM1
  • general transcription factor 3
  • GT2D1_HUMAN
  • GTF2I repeat domain-containing 1
  • GTF3
  • hMusTRD1alpha1
  • muscle TFII-I repeat domain-containing protein 1 alpha 1
  • MusTRD1
  • RBAP2
  • WBSCR11

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GTF2IRD1?

cell ; chromosome ; cognition ; craniofacial ; deletion ; DNA ; domain ; gene ; gene regulation ; protein ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

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? in the Handbook.

 
Reviewed: March 2008
Published: December 16, 2014