NAA60

Chr 16

N-alpha-acetyltransferase 60, NatF catalytic subunit

Also known as: HAT4, IBGC9, NAT15, NatF, hNaa60

NCBI Gene: 79903 ENSG00000122390 UniProt: Q9H7X0

The protein is an N-alpha-acetyltransferase that acetylates N-terminal residues of transmembrane proteins and is required for normal chromosomal segregation during cell division. Biallelic mutations cause basal ganglia calcification, idiopathic, 9, an autosomal recessive disorder affecting the brain's basal ganglia structures. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.596), suggesting some tolerance to inactivating mutations.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBasal ganglia calcification, idiopathic, 9, autosomal recessive

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.60

LOEUF

Mechanism· predicted

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GeneReview available — NAA60