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EYS

EYS

The information on this page was automatically extracted from online scientific databases.

What is the official name of the EYS gene?

The official name of this gene is “eyes shut homolog (Drosophila).”

EYS is the gene's official symbol. The EYS 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 EYS gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Required to maintain the integrity of photoreceptor cells.

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

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the EYS gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the EYS gene's known or predicted involvement in human disease.

Retinitis pigmentosa 25 (RP25): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the EYS gene.
  • Retinitis pigmentosa 25
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the EYS gene and its association with health conditions.
OMIM
Number
Title

Where is the EYS gene located?

Cytogenetic Location: 6q12

Molecular Location on chromosome 6: base pairs 63,719,979 to 65,707,224

The EYS gene is located on the long (q) arm of chromosome 6 at position 12.

The EYS gene is located on the long (q) arm of chromosome 6 at position 12.

More precisely, the EYS gene is located from base pair 63,719,979 to base pair 65,707,224 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about EYS?

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

  • bA74E24.1
  • bA166P24.2
  • bA307F22.3
  • C6orf178
  • C6orf179
  • C6orf180
  • dJ22I17.2
  • dJ303F19.1
  • dJ1018A4.2
  • EGFL10
  • EGFL11
  • RP25
  • SPAM

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 EYS?

autosomal ; autosomal recessive ; expressed ; fundus ; gene ; growth factor ; isoforms ; peripheral ; photoreceptor ; pigment ; protein ; recessive ; retina ; transcript

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

See also Understanding Medical Terminology.

 

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.

 
Published: July 27, 2015