CECR1

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Cat eye syndrome chromosome region, candidate 1
Protein CECR1 PDB 3LGD.png
Rendering based on PDB 3LGD.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CECR1 ; ADA2; ADGF; IDGFL; PAN
External IDs OMIM607575 HomoloGene81852 GeneCards: CECR1 Gene
EC number 3.5.4.4
RNA expression pattern
PBB GE CECR1 219505 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51816 n/a
Ensembl ENSG00000093072 n/a
UniProt Q9NZK5 n/a
RefSeq (mRNA) NM_001282225 n/a
RefSeq (protein) NP_001269154 n/a
Location (UCSC) Chr 22:
17.66 – 17.7 Mb
n/a
PubMed search [1] n/a

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.[2]

References[edit]

  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 (May 2000). "The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome". Genomics 64 (3): 277–85. doi:10.1006/geno.1999.6099. PMID 10756095. 
  2. ^ a b "Entrez Gene: CECR1 cat eye syndrome chromosome region, candidate 1". 

Further reading[edit]