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SLITRK6 gene
URL of this page: https://medlineplus.gov/genetics/gene/slitrk6/

SLITRK6 gene

SLIT and NTRK like family member 6

Normal Function

The SLITRK6 gene provides instructions for making a protein that is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit sound (auditory) signals. It also controls (regulates) the growth of the eye after birth. In particular, the SLITRK6 protein influences the length of the eyeball (axial length), which affects whether a person will be nearsighted or farsighted, or will have normal vision. The SLITRK6 protein spans the cell membrane, where it is anchored in the proper position to perform its function.

Health Conditions Related to Genetic Changes

Deafness and myopia syndrome

At least three SLITRK6 gene mutations have been identified in people with deafness and myopia syndrome, a disorder that causes both hearing loss and severe nearsightedness (high myopia). The mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.

More About This Health Condition

Other Names for This Gene

  • 4832410J21Rik
  • DFNMYP
  • FLJ22774
  • SLIT and NTRK-like family, member 6
  • SLIT and NTRK-like protein 6 precursor
  • slit and trk like gene 6

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Aruga J, Yokota N, Mikoshiba K. Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue. Gene. 2003 Oct 2;315:87-94. doi: 10.1016/s0378-1119(03)00715-7. Citation on PubMed
  • Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E, O'Reilly RC, Jinks RN, Puffenberger EG, Heaps A, Morton H, Strauss KA. A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. Laryngoscope. 2014 Mar;124(3):E95-103. doi: 10.1002/lary.24361. Epub 2013 Dec 17. Citation on PubMed or Free article on PubMed Central
  • Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. Citation on PubMed or Free article on PubMed Central

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