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Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1)

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IDGFL; ADGF; ADA2; Cat Eye Syndrome Critical Region Protein 1

Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1)
CCC L307
HGNC 1839
PubMed 10756095
UniProt Q9NZK5
Wiki CECR1
CECR1 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.
The deduced protein contains 511 amino acids and shows sequence similarity to insect and mollusk growth factors.Highest expression was in adult heart, lung, lymphoblasts, spleen, and placenta, as well as in fetal lung, liver, and kidney. Expression was weaker in adult pancreas, skeletal muscle, and liver, and faint in adult and fetal brain. In situ hybridization of a 35-day human embryo detected CECR1 mRNA in the outflow tract and atrium of the heart, the VII/VIII cranial nerve ganglion, the notochord, and the placenta.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPL307Hu01 Recombinant Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAL307Hu01 Polyclonal Antibody to Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) WB; IHC; ICC; IP.
MAL307Hu21 Monoclonal Antibody to Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) WB; IHC; ICC; IP.
LAL307Hu71 Biotin-Linked Polyclonal Antibody to Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) WB; IHC; ICC.
Assay Kits SEL307Hu ELISA Kit for Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) Enzyme-linked immunosorbent assay for Antigen Detection.
SCL307Hu CLIA Kit for Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) Chemiluminescent immunoassay for Antigen Detection.
  1. "The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome."Genomics 64:277-285(2000) [PubMed] [Europe PMC] [Abstract]
  2. "A genome annotation-driven approach to cloning the human ORFeome."Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of human chromosome 22." Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity."Biochem. J. 391:51-57(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages."J. Leukoc. Biol. 88:279-290(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Structural basis for the growth factor activity of human adenosine deaminase ADA2."J. Biol. Chem. 285:12367-12377(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Early-onset stroke and vasculopathy associated with mutations in ADA2." N. Engl. J. Med. 370:911-920(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy." N. Engl. J. Med. 370:921-931(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Mutant ADA2 in vasculopathies."N. Engl. J. Med. 371:478-480(2014) [PubMed] [Europe PMC] [Abstract]