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GRIP1

GRIP1

Reviewed June 2014

What is the official name of the GRIP1 gene?

The official name of this gene is “glutamate receptor interacting protein 1.”

GRIP1 is the gene's official symbol. The GRIP1 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 GRIP1 gene?

The GRIP1 gene provides instructions for making a protein that is able to attach (bind) to other proteins and is important for moving (targeting) proteins to the correct location in cells. For example, the GRIP1 protein targets two proteins called FRAS1 and FREM2 to the correct region of the cell so that they can form a group of proteins known as the FRAS/FREM complex. This complex is found in the thin, sheet-like structures (basement membranes) that separate and support the cells of many tissues. The complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.

In addition, the GRIP1 protein targets necessary proteins to the junctions (synapses) between nerve cells (neurons) in the brain where cell-to-cell communication occurs. GRIP1 may also be involved in the development of neurons.

How are changes in the GRIP1 gene related to health conditions?

Fraser syndrome - caused by mutations in the GRIP1 gene

At least two GRIP1 gene mutations have been found to cause Fraser syndrome; these mutations are involved in a small percentage of cases of this condition. Fraser syndrome affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues.

GRIP1 gene mutations alter the genetic blueprint that carries the instructions for making GRIP1 protein. If any GRIP1 protein is made, it is likely unable to function. Without GRIP1, FRAS1 and FREM2 do not get to the correct location to form the FRAS/FREM complex. Lack of the FRAS/FREM complex in the basement membrane of skin leads to detachment of the top layer of skin, causing blisters to form during development. These blisters likely prevent the proper formation of certain structures before birth, leading to cryptophthalmos and cutaneous syndactyly. It is unknown how lack of the FRAS/FREM complex leads to kidney abnormalities and other problems in Fraser syndrome.

Where is the GRIP1 gene located?

Cytogenetic Location: 12q14.3

Molecular Location on chromosome 12: base pairs 66,347,397 to 67,069,230

The GRIP1 gene is located on the long (q) arm of chromosome 12 at position 14.3.

The GRIP1 gene is located on the long (q) arm of chromosome 12 at position 14.3.

More precisely, the GRIP1 gene is located from base pair 66,347,397 to base pair 67,069,230 on chromosome 12.

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

Where can I find additional information about GRIP1?

You and your healthcare professional may find the following resources about GRIP1 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 GRIP1 gene or gene products?

  • glutamate receptor-interacting protein 1
  • GRIP

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 GRIP1?

basement membrane ; basement membranes ; cell ; cutaneous ; gene ; kidney ; protein ; receptor ; syndactyly ; syndrome

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

See also Understanding Medical Terminology.

References (8 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 2014
Published: October 27, 2014