CECR1 explained

Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.^{[1] [2]}

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• Charlab R, Valenzuela JG, Andersen J, Ribeiro JM . The invertebrate growth factor/CECR1 subfamily of adenosine deaminase proteins . Gene . 267 . 1 . 13–22 . 2001 . 11311551 . 10.1016/S0378-1119(01)00393-6 .
• Footz TK, Brinkman-Mills P, Banting GS . Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere . Genome Res. . 11 . 6 . 1053–70 . 2001 . 11381032 . 10.1101/gr.154901 . 311098 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Collins JE, Wright CL, Edwards CA . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . etal . free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Zavialov AV, Engström A . Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity . Biochem. J. . 391 . Pt 1 . 51–7 . 2006 . 15926889 . 10.1042/BJ20050683 . 1237138 .
• Otsuki T, Ota T, Nishikawa T . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . etal. free .

Notes and References

1. Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE . The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome . Genomics . 64 . 3 . 277–85 . May 2000 . 10756095 . 10.1006/geno.1999.6099 .
2. Hoppe. W.. Gassmann. J.. Hunsmann. N.. Schramm. H. J.. Sturm. M.. August 1975. Comments on the paper "Relevance of three-dimensional reconstructions of stain distributions for structural analysis of biomolecules". Hoppe-Seyler's Zeitschrift für Physiologische Chemie. 356. 8. 1317–1320. 10.1515/bchm2.1975.356.2.1317. 0018-4888. 51816.