N-acetyltransferase 8B (NAT8B)

N-acetyltransferase 8B (NAT8B) is a human gene highly similar to N-acetyltransferase 8 (NAT8), which encodes an acetyltransferase enzyme involved in protein modification[1][9]. However, in humans, NAT8B is classified as a transcribed pseudogene: it generally contains polymorphic nonsense mutations that disrupt the catalytic active site, preventing production of a functional enzyme in the vast majority of people[1][9]. Exceptionally rare genetic variants could potentially produce a full-length enzyme possessing acetyltransferase activity[1]. In model systems, related proteins display lysine N6-acetyltransferase activity, influencing protein folding in the endoplasmic reticulum and possibly regulating apoptosis or amyloid-beta metabolism, but these roles are not confirmed for the human NAT8B product, due to its pseudogene status[1][2][4][6]. There are no known drugs or disease associations specific to NAT8B, and it is not considered a pharmacological target. Key clarifications: - NAT8B is *not* an established therapeutic target due to its classification as a non-functional pseudogene in humans[1][9]. - The canonical name is “N-acetyltransferase 8B,” and the most recognized abbreviation is “NAT8B.” - It should not be confused with NAT8, which encodes a functional enzyme. - Its aliases and predicted functions relate to the potential (but rarely realized) activity of the intact protein. Summary: N-acetyltransferase 8B (NAT8B) is a human pseudogene with homology to bona fide acetyltransferases, but is not generally considered a functional target for drug discovery or therapeutic intervention[1][9].

Other names

CML2ATase1Hcml2NAT8BPCamello-like protein 2Acetyltransferase 1Protein-lysine N6-acetyltransferase 8B

Not established