NAA20 Chromosome 20

N-alpha-acetyltransferase 20, NatB catalytic subunit

2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in NAA20.

What This Gene Does

NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]

Gene Info

Gene Group

"N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases"

Locus Type

gene with protein product

Location

20p11.23

Ensembl

ENSG00000173418

Associated Conditions (2)

Intellectual developmental disorder

autosomal recessive 73

Key Variants

RS2146464332

Likely pathogenic

Intellectual developmental disorder, autosomal recessive 73, Intellectual developmental disorder

Health Risk

RS768029717

Pathogenic

Intellectual developmental disorder, autosomal recessive 73, Intellectual developmental disorder

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2146464332	Health Risk	Likely pathogenic	Intellectual developmental disorder, autosomal recessive 73, Intellectual developmental disorder
RS768029717	Health Risk	Pathogenic	Intellectual developmental disorder, autosomal recessive 73, Intellectual developmental disorder