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- Table of Contents
Facts about Protein eyes shut homolog.
Human | |
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Gene Name: | EYS |
Uniprot: | Q5T1H1 |
Entrez: | 346007 |
Belongs to: |
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EYS family |
C6orf178; C6orf179; C6orf180; dJ22I17.2; dJ303F19.1; EGFL10; EGFL11; EGF-like-domain, multiple 10; EGF-like-domain, multiple 11; eyes shut homolog (Drosophila); protein spacemaker homolog
Mass (kDA):
350.796 kDA
Human | |
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Location: | 6q12 |
Sequence: | 6; NC_000006.12 (63719980..65707226, complement) |
Present in retina.
Cell projection, cilium, photoreceptor outer segment. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix. Localizes to discrete puncta at, or adjacent to, the photoreceptor connecting cilium (PubMed:27737822). Highly expressed in cone photoreceptor outer segments (PubMed:27737822). Weakly expressed in rod photoreceptor outer segments (By similarity). May localize to the cilium axoneme (PubMed:27846257). May also be secreted into the i
PMID: 18976725 by Collin R.W.J., et al. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
PMID: 18836446 by Abd El-Aziz M.M., et al. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.