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GRIP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GRIP1 gene

The GRIP1 gene provides instructions for a protein that helps organize cell structures and is vital for development before birth.

Normal Function

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.

Health Conditions Related to Genetic Changes

Fraser syndrome

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.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

Congenital anomalies of kidney and urinary tract

MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract.

Other Names for This Gene

  • glutamate receptor-interacting protein 1
  • GRIP

Frequently Asked Questions

Key signs include complete or partial cryptophthalmos (eyes covered by skin), cutaneous syndactyly of the fingers and toes, renal anomalies (often agenesis or cystic kidneys), and occasionally laryngeal or genital malformations. The presence of two or more of these features, especially cryptophthalmos plus renal defects, strongly points toward Fraser syndrome and warrants genetic testing for GRIP1 and other related genes.
Prenatal diagnosis relies on detailed ultrasound findings (e.g., cryptophthalmos, renal agenesis, limb syndactyly) combined with molecular testing. If ultrasound raises suspicion, chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) can provide fetal DNA for targeted GRIP1 sequencing or a comprehensive exome panel. A confirmed pathogenic GRIP1 variant confirms the diagnosis and guides perinatal management.
Current management is supportive. Skin adhesions (syndactyly) may be surgically released to improve function, and ocular reconstruction can address cryptophthalmos, though visual outcomes vary. Kidney abnormalities are managed according to severity—ranging from monitoring renal function to dialysis or transplantation in cases of renal failure. No specific drug reverses the underlying GRIP1 defect; research into molecular chaperones is still pre‑clinical.
Yes. Because Fraser syndrome can be inherited in an autosomal recessive manner when GRIP1 is involved, both parents are typically carriers. Testing the parents confirms carrier status, and siblings have a 25 % chance of being affected and a 50 % chance of being carriers. Offering genetic counseling helps families understand recurrence risk, consider carrier testing for extended relatives, and discuss reproductive options such as preimplantation genetic diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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