NAA60 Chromosome 16
N-alpha-acetyltransferase 60, NatF catalytic subunit
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What This Gene Does
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]
Gene Info
Gene Group
"Lysine acetyltransferases|N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000122390
Associated Conditions (4)
Basal ganglia calcification
idiopathic
9
autosomal recessive
Key Variants
RS2543852689
Pathogenic
Basal ganglia calcification, idiopathic, 9
Health Risk
RS530032228
Pathogenic
Basal ganglia calcification, idiopathic, 9
Health Risk
RS748506439
Pathogenic
Basal ganglia calcification, idiopathic, 9
Health Risk
RS751041684
Pathogenic
Basal ganglia calcification, idiopathic, 9
Health Risk
RS756008307
Pathogenic
Basal ganglia calcification, idiopathic, 9
Health Risk
RS767025617
Pathogenic
Basal ganglia calcification, idiopathic, 9
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543852689 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 9 |
| RS530032228 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 9 |
| RS748506439 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 9 |
| RS751041684 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 9 |
| RS756008307 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 9 |
| RS767025617 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 9 |