NAA80
Function
N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively) (PubMed:29581253, PubMed:30028079). N-terminal acetylation of processed beta- and gamma-actin regulates actin filament depolymerization and elongation (PubMed:29581253). In vivo, preferentially displays N-terminal acetyltransferase activity towards acid N-terminal sequences starting with Asp-Asp-Asp and Glu-Glu-Glu (PubMed:29581253, PubMed:30028079). In vitro, shows high activity towards Met-Asp-Glu-Leu and Met-Asp-Asp-Asp (PubMed:10644992, PubMed:29581307). May act as a tumor suppressor (PubMed:10644992).
Involvement in disease
Auroneurodental syndrome
ANDS
An autosomal recessive syndrome characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphism, developmental delay and mild proximal and axial muscle weakness.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the acetyltransferase family.
Tissue Specificity
Strongly expressed in heart and skeletal muscle, followed by brain and pancreas, with weak expression in kidney, liver, and lung and no expression in placenta.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
FUS2, NAT6, NAA80, N-alpha-acetyltransferase 80, HsNAAA80, N-acetyltransferase 6, Protein fusion-2, Protein fus-2