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CECR1 information


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

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

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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000093072 – Ensembl, 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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CECR1

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critical region protein 1 is a protein that in humans is encoded by the CECR1 gene. This gene encodes a member of a subfamily of the adenosine deaminase...

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Cat eye syndrome

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supernumerary marker chromosomes in cat eye syndrome). This area contains the CECR1, SLC25A18, and ATP6V1E1 genes which are strong candidate genes for causing...

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Chromosome 22

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encoding chromobox protein homolog 7 CDC42EP1: CDC42 effector protein 1 CECR1: cat eye syndrome critical region protein 1 CHEK2 (22q12) COMT CRELD2: cysteine-rich...

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Adenosine deaminase 2 deficiency

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is caused by mutations in DNA encoding the gene ADA2, formerly known as CECR1. The ADA2 gene is located on chromosome 22q11.1.  Many different kinds of...

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Small supernumerary marker chromosome

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located on its q arm at bands 11.1 through ll.23. This area contains the CECR1, SLC22A18, and ATP6V1E1 genes which are strong candidate genes for causing...

Word Count : 7172

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