Browse our Cat Eye Syndrome Chromosome Region, Candidate 1 Proteins (CECR1)

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Cat Eye Syndrome Chromosome Region, Candidate 1 Proteins (CECR1)
On www.antibodies-online.com are 9 Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) Proteins from 6 different suppliers available. Additionally we are shipping Cat Eye Syndrome Chromosome Region, Candidate 1 Antibodies (23) and Cat Eye Syndrome Chromosome Region, Candidate 1 Kits (15) and many more products for this protein. A total of 53 Cat Eye Syndrome Chromosome Region, Candidate 1 products are currently listed.
Synonyms:
ADA2, ADGF, CECR1, fj65e02, IDGFL, wu:fj65e02
list all proteins Gene Name GeneID UniProt
CECR1 51816 Q9NZK5
CECR1    
CECR1    

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Cat Eye Syndrome Chromosome Region, Candidate 1 Proteins (CECR1) by Origin

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More Proteins for Cat Eye Syndrome Chromosome Region, Candidate 1 Interaction Partners

Xenopus laevis Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) interaction partners

Human Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) interaction partners

  1. We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS (show MAS1 Proteins)), and stimulator of interferon (show IFNA Proteins) genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever (show MEFV Proteins)

  2. Findings indicate that ADA2 (show TADA2A Proteins) deficiency presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for ADA2 (show TADA2A Proteins) deficiency.

  3. The clinical manifestations of adenosine deaminase 2 deficiency ranged in severity from limited cutaneous involvement to severe multisystemic vasculitis; one-third of our cases (5 of 15) were currently asymptomatic, and required close monitoring. We recommend CECR1 screening for unaffected siblings of index cases, cases of familial vasculitis, and cases of PAN that is resistant to standard treatment

  4. Deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1.

  5. IL-17 receptor A (show IL17RA Proteins) and adenosine deaminase 2 deficiency due to deletion mutations was found in siblings with chronic mucocutaneous candidiasis and chronic systemic inflammation.

  6. This case series revealed large phenotypic variability in patients with ADA2 (show TADA2A Proteins) deficiency though they were homozygous for the same R169Q mutation in CECR1.

  7. Ectopic expression of miR (show MLXIP Proteins)-146b-3p suppressed ADA2 (show TADA2A Proteins) expression, activity, and TNF-alpha (show TNF Proteins) release in the AGA (show AGA Proteins)-treated human macrophages

  8. In patients with unexplained young-onset lacunar stroke accompanied by systemic inflammation and a positive family history suspicious of recessively inherited disease, ADA2 (show TADA2A Proteins) deficiency needs to be considered in the differential diagnosis.

  9. ADA2 (CECR1) may act as a regulator of neutrophil activation, and that a reduction of ADA2 (show TADA2A Proteins) activity results in significant endothelial damage via a neutrophil-driven process.

  10. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1.

Pig (Porcine) Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) interaction partners

  1. Increased ADA2 expression and activity are identified in human and porcine retinas with diabetes.

Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1) Protein Profile

Protein Summary

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.

Alternative names and synonyms associated with Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1)

  • cat eye syndrome chromosome region, candidate 1a (cecr1a)
  • cat eye syndrome chromosome region, candidate 1 (CECR1)
  • cat eye syndrome chromosome region, candidate 1 (LOC100223090)
  • adenosine deaminase CECR1 (cecr1)
  • ADA2 protein
  • ADGF protein
  • CECR1 protein
  • fj65e02 protein
  • IDGFL protein
  • wu:fj65e02 protein

Protein level used designations for CECR1

ADA2-1 , adenosine deaminase CECR1-A , cat eye syndrome chromosome region, candidate 1 , cat eye syndrome critical region protein 1 homolog A , adenosine deaminase CECR1 , cat eye syndrome critical region protein 1-like , cat eye syndrome critical region protein 1 , insect-derived growth factor-B-like protein , adenosine deaminase 2 , Cat eye syndrome critical region protein 1 homolog

GENE ID SPECIES
373884 Danio rerio
418160 Gallus gallus
458631 Pan troglodytes
617805 Bos taurus
100223090 Taeniopygia guttata
779128 Xenopus laevis
51816 Homo sapiens
397079 Sus scrofa
100172262 Pongo abelii
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