KAT14 Chromosome 20
Lysine acetyltransferase 14
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What This Gene Does
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]
Gene Info
Gene Group
"Lysine acetyltransferases|ATAC complex|GCN5 related N-acetyltransferases"
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000149474
Associated Conditions (2)
Global developmental delay
Seizure
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS771882905 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Global developmental delay |