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17960 Ensembl ENSG00000156006 ENSMUSG00000025588 UniProt P11245 P50294 RefSeq (mRNA) NM_000015 NM_008673 RefSeq (protein) NP_000006 NP_032699 Location (UCSC) Chr 8: 18.39 – 18.4 Mb Chr 8: 67.93 – 67.94 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse N-acetyltransferase 2 (arylamine N-acetyltransferase), also known as NAT2, is an enzyme which in humans is encoded by the NAT2 gene ...
N-acetyltransferase (NAT) is an enzyme that catalyzes the transfer of acetyl groups from acetyl-CoA to arylamines, arylhydroxylamines and arylhydrazines. [1] [2] [3] They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Originally, a heterozygous state is required and indicates the absence of a functional tumor suppressor gene copy in the region of interest. However, many people remain healthy with such a loss, because there still is one functional gene left on the other chromosome of the chromosome pair .
[17] [18] In addition, mice which lack one functional copy of both the CBP and p300 genes (i.e. are heterozygous for both CBP and p300) and thus have half of the normal amount of both CBP and p300, also die early in embryogenesis. [17] This indicates that the total amount of CBP and p300 protein is critical for embryo development.
N-acetyltransferase 1 (arylamine N-acetyltransferase) is a protein that in humans is encoded by the NAT1 gene. [5]This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat NAT2 genes.
Parts of a typical chromosome: (1) Chromatid (2) Centromere (3) Short (p) arm (4) Long (q) arm. In genetics, a locus (pl.: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. [1]
A compound heterozygous mutation of the HADHB gene can cause axonal Charcot-Marie-tooth disease, which is a neurological disorder, which shows that mutations in this gene can result in deficiencies that present in new forms not currently described.