OMIA:001587-9615 : Deficiency of cytosolic arylamine N-acetylation in Canis lupus familiaris |
In other species: domestic cat
Categories: Normal phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 243400 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
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
- Changed by Frank Nicholas on 24 Apr 2019
- Changed by Frank Nicholas on 16 Apr 2020
- Changed by Imke Tammen2 on 23 Feb 2023