Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.[3][4]

ADA2
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesADA2, ADGF, IDGFL, PAN, SNEDS, CECR1, cat eye syndrome chromosome region, candidate 1, adenosine deaminase 2, VAIHS
External IDsOMIM: 607575; HomoloGene: 81852; GeneCards: ADA2; OMA:ADA2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

RefSeq (protein)

n/a

Location (UCSC)Chr 22: 17.18 – 17.26 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

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.[4]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000093072Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ 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.
  4. ^ a b 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. doi:10.1515/bchm2.1975.356.2.1317. ISSN 0018-4888. PMID 51816.
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Further reading

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