EYS gene

eyes shut homolog

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

From NCBI Gene:

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 UniProt:

Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 25

From UniProt:

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. [MIM:602772]

Cytogenetic Location: 6q12, which is the long (q) arm of chromosome 6 at position 12

Molecular Location: base pairs 63,719,980 to 65,707,226 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 6q12, which is the long (q) arm of chromosome 6 at position 12
  • bA74E24.1
  • bA166P24.2
  • bA307F22.3
  • C6orf178
  • C6orf179
  • C6orf180
  • dJ22I17.2
  • dJ303F19.1
  • dJ1018A4.2
  • EGFL10
  • EGFL11
  • RP25
  • SPAM