NAA80 Chromosome 3

N-alpha-acetyltransferase 80, NatH catalytic subunit
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000243477
Associated Conditions (2)
See cases
Auroneurodental syndrome
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2109291659 Health Risk Pathogenic/Likely pathogenic See cases, Auroneurodental syndrome, See cases
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