KAT14

Chr 20

lysine acetyltransferase 14

Also known as: ATAC2, CRP2BP, CSRP2BP, PRO1194, dJ717M23.1

NCBI Gene: 57325 ENSG00000149474 UniProt: Q9H8E8

KAT14 encodes a histone acetyltransferase that functions as a component and scaffold of the ATAC complex, which acetylates histones H3 and H4 and is required for normal cell cycle progression through G1 and G2/M phases. Mutations cause autosomal dominant neurodevelopmental disorder with language impairment and behavioral abnormalities, primarily affecting cognitive and behavioral development. The gene shows minimal constraint against loss-of-function variants, suggesting tolerance to heterozygous protein loss.

ResearchSummary from RefSeq, UniProt

CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

—

Mechanism

Some data sources returned errors (1)