6vp9

Structural highlights

Disease

NAA20_HUMAN Autosomal recessive non-syndromic intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Function

NAA20_HUMAN Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln (PubMed:34230638). Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration.^{[1] [2]}

References

1. ↑ Starheim KK, Arnesen T, Gromyko D, Ryningen A, Varhaug JE, Lillehaug JR. Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression. Biochem J. 2008 Oct 15;415(2):325-31. PMID:18570629 doi:10.1042/BJ20080658
2. ↑ Morrison J, Altuwaijri NK, Brønstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T. Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. Genet Med. 2021 Nov;23(11):2213-2218. PMID:34230638 doi:10.1038/s41436-021-01264-0