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GPR56

GPR56

Reviewed June 2009

What is the official name of the GPR56 gene?

The official name of this gene is “G protein-coupled receptor 56.”

GPR56 is the gene's official symbol. The GPR56 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 GPR56 gene?

The GPR56 gene provides instructions for making a protein that is critical for normal brain development. Before birth, the GPR56 protein appears to be essential for the normal growth and movement (migration) of nerve cells (neurons) in a part of the brain called the cerebral cortex. This outer layer of the brain carries out many important functions, such as sensation, voluntary muscle movement, thought, planning, and memory.

Although the GPR56 protein has been studied most extensively in the brain, it is active in many of the body's tissues. The GPR56 protein interacts with other proteins on the cell surface to trigger a series of chemical signals within the cell. Studies suggest that GPR56 signaling may play an important role in attaching cells to one another (cell adhesion).

Does the GPR56 gene share characteristics with other genes?

The GPR56 gene belongs to a family of genes called GPCR (G protein-coupled receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the GPR56 gene related to health conditions?

polymicrogyria - caused by mutations in the GPR56 gene

At least eleven mutations in the GPR56 gene have been identified in people with a severe form of polymicrogyria called bilateral frontoparietal polymicrogyria (BFPP). This disorder causes intellectual disability, delayed development, problems with speech and movement, and recurrent seizures (epilepsy). Most of the identified mutations change a single protein building block (amino acid) in the GPR56 protein. These mutations interfere with the normal processing of the protein. The abnormal protein becomes trapped within the cell, where it is unable to reach the cell surface to carry out its normal signaling functions.

A loss of GPR56 function likely disrupts the normal migration of neurons in the developing brain. As a result, certain regions of the cerebral cortex—areas known as the frontal and parietal lobes—develop too many folds (called gyri), and the folds are unusually small. These brain abnormalities cause intellectual disability and the other neurological problems associated with bilateral frontoparietal polymicrogyria.

Where is the GPR56 gene located?

Cytogenetic Location: 16q13

Molecular Location on chromosome 16: base pairs 57,619,529 to 57,665,031

The GPR56 gene is located on the long (q) arm of chromosome 16 at position 13.

The GPR56 gene is located on the long (q) arm of chromosome 16 at position 13.

More precisely, the GPR56 gene is located from base pair 57,619,529 to base pair 57,665,031 on chromosome 16.

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

Where can I find additional information about GPR56?

You and your healthcare professional may find the following resources about GPR56 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 GPR56 gene or gene products?

  • 7-transmembrane protein with no EGF-like N-terminal domains-1
  • DKFZp781L1398
  • EGF-TM7-like
  • GPR56_HUMAN
  • TM7LN4
  • TM7XN1

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 GPR56?

amino acid ; bilateral ; cell ; cell adhesion ; cerebral cortex ; disability ; epilepsy ; gene ; neurological ; protein ; receptor ; transmembrane ; voluntary muscle

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

See also Understanding Medical Terminology.

References (11 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: June 2009
Published: December 22, 2014