EYS - eyes shut homolog (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-02-02
Description
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]
Predicted to enable calcium ion binding activity. Involved in detection of light stimulus involved in visual perception and skeletal muscle tissue regeneration. Located in extracellular exosome. Implicated in retinitis pigmentosa 25.
- C6orf178
- C6orf179
- C6orf180
- EGFL10
- EGFL11
- RP25
- SPAM
- bA166P24.2
- bA307F22.3
- bA74E24.1
- dJ1018A4.2
- dJ22I17.2
- dJ303F19.1
- protein eyes shut homolog
- EGF-like-domain, multiple 10
- EGF-like-domain, multiple 11
- epidermal growth factor-like protein 10
- epidermal growth factor-like protein 11
- protein spacemaker homolog
Required to maintain the integrity of photoreceptor cells (PMID: 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).
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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