Spacemaker Homolog (SPAM)
[Edit]EYS; EGFL11; RP25; EGFL10; C6orf178; C6orf179; C6orf180; EGF-Like-Domain,Multiple 11; Retinitis Pigmentosa 25; Eyes Shut Homolog; Epidermal growth factor-like protein 10
The deduced 3,145-amino acid protein has at least 21 EGF-like domains in its N-terminal region followed by 5 C-terminal LamG domains interspersed by further EGF repeats. PCR analysis of cDNAs from a variety of normal tissues and cell lines detected EYS only in retina and in a human retinoblastoma cell line. Immunohistochemical analysis of mature pig retina detected Eys in the photoreceptor layer.The protein encoded by this transcript comprised 3,165 amino acids and was predicted to contain a signal peptide for secretion into the extracellular environment, 28 EGF-like domains, and 5 laminin A G-like domains. BLAST analyses revealed that this gene was the true ortholog of the Drosophila 'eyes shut' (eys) gene, and the authors designated the human gene EYS. RT-PCR analysis of total RNA from various human tissues showed that the EYS gene is abundantly expressed in retina.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Spacemaker Homolog (SPAM) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Spacemaker Homolog (SPAM) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Spacemaker Homolog (SPAM) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Spacemaker Homolog (SPAM) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Spacemaker Homolog (SPAM) | ELISA Kit Customized Service Offer |
- "Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa."Am. J. Hum. Genet. 83:594-603(2008) [PubMed] [Europe PMC] [Abstract]
- "EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa."Nat. Genet. 40:1285-1287(2008) [PubMed] [Europe PMC] [Abstract]
- "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa."BMC Med. Genet. 11:121-121(2010) [PubMed] [Europe PMC] [Abstract]
- "Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa."Hum. Mutat. 31:E1772-E1800(2010) [PubMed] [Europe PMC] [Abstract]
- "EYS is a major gene for rod-cone dystrophies in France."Hum. Mutat. 31:E1406-E1435(2010) [PubMed] [Europe PMC] [Abstract]