DISEASES

Disease-gene associations mined from literature

Literature associating NAA10 and microphthalmia

NAA10 [ENSP00000417763]

N-terminal acetyltransferase complex ARD1 subunit homolog A; Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. Acetylates amino termini that are devoid of initiator methionine. The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration. Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development. Acetylates HSPA1A and HSPA1B at 'Lys-77' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX. Acts as a negative regulator of sister chromatid cohesion during mitosis; GCN5 related N-acetyltransferases

Synonyms:  NAA10,  NAA10p,  hNAA10,  A8MWP7,  C9JN83 ...

Linkouts:  STRING  Pharos  UniProt  OMIM