jueves, 12 de noviembre de 2015

SLITRK6 - SLIT and NTRK-like family, member 6 - Genetics Home Reference

SLITRK6 - SLIT and NTRK-like family, member 6 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions

SLITRK6

What is the official name of the SLITRK6 gene?

The official name of this gene is “SLIT and NTRK-like family, member 6.”
SLITRK6 is the gene's official symbol. The SLITRK6 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 SLITRK6 gene?

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.

How are changes in the SLITRK6 gene related to health conditions?


deafness and myopia syndrome - caused by mutations in the SLITRK6 gene
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.

Where is the SLITRK6 gene located?

Cytogenetic Location: 13q31.1
Molecular Location on chromosome 13: base pairs 85,792,787 to 85,799,348
The SLITRK6 gene is located on the long (q) arm of chromosome 13 at position 31.1.
The SLITRK6 gene is located on the long (q) arm of chromosome 13 at position 31.1.
More precisely, the SLITRK6 gene is located from base pair 85,792,787 to base pair 85,799,348 on chromosome 13.

Where can I find additional information about SLITRK6?

You and your healthcare professional may find the following resources about SLITRK6 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 SLITRK6 gene or gene products?

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

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 SLITRK6?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 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

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