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

FRMD7

Reviewed September 2009

What is the official name of the FRMD7 gene?

The official name of this gene is “FERM domain containing 7.”

FRMD7 is the gene's official symbol. The FRMD7 gene is also known by other names, listed below.

What is the normal function of the FRMD7 gene?

The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found in many tissues, but it is most abundant in areas of the brain that control eye movement (such as the midbrain and cerebellum) and in the light-sensitive tissue at the back of the eye (retina). The FRMD7 protein likely plays a role in the development of nerve cells in these areas of the brain and the retina.

How are changes in the FRMD7 gene related to health conditions?

X-linked infantile nystagmus - caused by mutations in the FRMD7 gene

More than 35 mutations in the FRMD7 gene have been found to cause X-linked infantile nystagmus. Most of these mutations change single protein building blocks (amino acids) in the FRMD7 protein. Mutations in the FRMD7 gene likely lead to the production of a protein that is unstable and that cannot perform its normal function. A lack of functional FRMD7 protein is thought to disrupt the development of nerve cells in the retina and areas of the brain that control eye movement. Abnormal development of these nerve cells likely causes the involuntary side-to-side eye movements that are characteristic of X-linked infantile nystagmus.

Where is the FRMD7 gene located?

Cytogenetic Location: Xq26.2

Molecular Location on the X chromosome: base pairs 132,076,992 to 132,128,021

The FRMD7 gene is located on the long (q) arm of the X chromosome at position 26.2.

The FRMD7 gene is located on the long (q) arm of the X chromosome at position 26.2.

More precisely, the FRMD7 gene is located from base pair 132,076,992 to base pair 132,128,021 on the X chromosome.

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 FRMD7?

You and your healthcare professional may find the following resources about FRMD7 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 FRMD7 gene or gene products?

  • FRMD7_HUMAN
  • NYS1

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 FRMD7?

acids ; cerebellum ; domain ; gene ; involuntary ; nystagmus ; protein ; retina ; tissue

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

References

  • OMIM: FERM DOMAIN-CONTAINING PROTEIN 7 (http://omim.org/entry/300628)
  • He X, Gu F, Wang Z, Wang C, Tong Y, Wang Y, Yang J, Liu W, Zhang M, Ma X. A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. Genet Test. 2008 Dec;12(4):607-13. doi: 10.1089/gte.2008.0070. (http://www.ncbi.nlm.nih.gov/pubmed/19072571?dopt=Abstract)
  • Li N, Wang L, Cui L, Zhang L, Dai S, Li H, Chen X, Zhu L, Hejtmancik JF, Zhao K. Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Mol Vis. 2008 Apr 18;14:733-8. (http://www.ncbi.nlm.nih.gov/pubmed/18431453?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/90167)
  • Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR, Chen X, Trump D, Lotery AJ. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch Ophthalmol. 2007 Sep;125(9):1255-63. (http://www.ncbi.nlm.nih.gov/pubmed/17846367?dopt=Abstract)
  • Shiels A, Bennett TM, Prince JB, Tychsen L. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. Mol Vis. 2007 Nov 29;13:2233-41. (http://www.ncbi.nlm.nih.gov/pubmed/18087240?dopt=Abstract)
  • Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006 Nov;38(11):1242-4. Epub 2006 Oct 1. Erratum in: Nat Genet. 2011 Jul;43(7):720. Bastawrous, Andrew [added]. (http://www.ncbi.nlm.nih.gov/pubmed/17013395?dopt=Abstract)
  • Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, Xia J. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Mol Vis. 2007 Sep 13;13:1674-9. (http://www.ncbi.nlm.nih.gov/pubmed/17893669?dopt=Abstract)
  • Zhang Q, Xiao X, Li S, Guo X. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Mol Vis. 2007 Aug 3;13:1375-8. (http://www.ncbi.nlm.nih.gov/pubmed/17768376?dopt=Abstract)

 

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.

 
Reviewed: September 2009
Published: September 15, 2014