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OMIA 001587-9615 : Deficiency of cytosolic arylamine N-acetylation in Canis lupus familiaris

In other species: domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 243400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1997

Molecular basis: Trepanier et al. (1997) showed that all dogs, and other canids, lack both NAT1 and NAT2 genes, and hence compleley lack the enzyme cytosolic N-acetyltransferase (NAT).

Genetic testing: Since all dogs lack the two genes, there is no need for any genetic testing.

Reference


1997 Trepanier, LA., Ray, K., Winand, NJ., Spielberg, SP., Cribb, AE. :
Cytosolic arylamine N-acetyltransferase (NAT) deficiency in the dog and other canids due to an absence of NAT genes. Biochem Pharmacol 54:73-80, 1997. Pubmed reference: 9296352.

Edit History


  • Created by Frank Nicholas on 21 Jul 2011
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 03 Sep 2012