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KAT6B lysine acetyltransferase 6B

Gene ID: 23522, updated on 13-Jan-2019
Also known as: qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf

Summary

The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-04-25)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
10q22.2
Sequence:
Chromosome: 10; NC_000010.11 (74824927..75032623)
Total number of exons:
20

Links

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