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CNSN Carnosinemia (carnosinase) [ Homo sapiens (human) ]

Gene ID: 8173, updated on 31-Aug-2024

Summary

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Official Symbol
CNSNprovided by HGNC
Official Full Name
Carnosinemia (carnosinase)provided by HGNC
Primary source
MIM:212200
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Genomic context

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Location:
18q21.3

Bibliography

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Related articles in PubMed

  1. Does low serum carnosinase activity favor high-intensity exercise capacity? Baguet A, et al. J Appl Physiol (1985), 2014 Mar 1. PMID 24408989
  2. Brain type carnosinase in dementia: a pilot study. Balion CM, et al. BMC Neurol, 2007 Nov 5. PMID 17983474, Free PMC Article
  3. A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Willi SM, et al. Pediatr Res, 1997 Feb. PMID 9029640
  4. Effect of minimized perfusion circuit on brain injury markers carnosinase and brain-type fatty binding protein in coronary artery bypass grafting patients. Pahari DR, et al. Artif Organs, 2013 Feb. PMID 23020859
  5. [Carnosine, carnosinase and kidney diseases]. Kiliś-Pstrusińska K. Postepy Hig Med Dosw (Online), 2012 Apr 20. PMID 22706107

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. explosive athletes have lower serum carnosinase activity and content compared with untrained controls
    Title: Does low serum carnosinase activity favor high-intensity exercise capacity?
  2. Report feasibility of detecting carnosinase as biomarker for ischemic brain damage during extrcorporeal circulation in coronary artery bypass grafting patients.
    Title: Effect of minimized perfusion circuit on brain injury markers carnosinase and brain-type fatty binding protein in coronary artery bypass grafting patients.
  3. In this review, correlations between serum carnosine and carnosinase activity and polymorphism in CNDP1 gene are analyzed. The role of CNDP1 gene polymorphism the development of diabetic nephropathy and non-diabetic chronic kidney disease is discussed.
    Title: [Carnosine, carnosinase and kidney diseases].
  4. carnosinase gene polymorphisms may have a role in diabetic nephropathy in African-Americans
    Title: The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans.
  5. This exploratory study has shown altered activities of the enzyme carnosinase in patients with dementia.
    Title: Brain type carnosinase in dementia: a pilot study.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
Carnosinemia (carnosinase)
OMIM: 212200GeneReviews: Not available

General gene information

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Property

  • phenotype only

Gene LinkOut

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