Anti-EYS

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], Protein function: 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. [The UniProt Consortium] Recommended dilutions: IHC-p 1:50-200. Cellular localization: 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 interphotoreceptor extracellular matrix (PubMed:27737822). .