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SLITRK6 gene

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

SLITRK6 gene

The SLITRK6 gene encodes a membrane‑spanning protein that supports inner‑ear neuron survival and regulates post‑natal eye growth; mutations can lead to deafness and high myopia.

Overview

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.

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

  • Tests of SLITRK6

Scientific Articles on PubMed

  • PubMed

Catalog of Genes and Diseases from OMIM

  • SLIT- AND NTRK-LIKE FAMILY, MEMBER 6; SLITRK6

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

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

Genomic Location

The SLITRK6 gene is found on chromosome 13.

Frequently Asked Questions

SLITRK6 gene mutations cause deafness and myopia syndrome, characterized by sensorineural hearing loss, which means damage to the inner ear or auditory nerve. The vision problem is severe nearsightedness (high myopia), where the eyeball is too long. The severity of both hearing and vision impairment can vary, and while high myopia typically develops in childhood and stabilizes, the progression of hearing loss should be monitored.
For hearing loss, treatment options include hearing aids or, in some cases, cochlear implants to improve sound perception. High myopia is managed with corrective lenses (glasses or contact lenses). Regular eye exams are crucial to monitor for potential complications associated with high myopia, such as retinal detachment, glaucoma, or cataracts.
Deafness and myopia syndrome caused by SLITRK6 mutations is inherited in an autosomal recessive pattern. This means a child must inherit two mutated copies of the SLITRK6 gene, one from each parent, to develop the condition. If both parents are carriers (each having one mutated copy but not showing symptoms), there is a 25% chance with each pregnancy that their child will have the syndrome.
Individuals with high myopia are at an increased risk for several serious eye complications later in life. These can include retinal detachment, glaucoma (increased pressure inside the eye), and cataracts (clouding of the eye's lens). Regular comprehensive eye exams are essential to detect and manage these complications early.
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.