KAT6B lysine acetyltransferase 6B
Gene ID: 23522, updated on 11-Apr-2024Gene type: protein coding
Also known as: qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf
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- Go to complete Gene record for KAT6B
- Go to Variation Viewer for KAT6B variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Blepharophimosis - intellectual disability syndrome, SBBYS type | See labs |
| Genetic variants associated with breast size also influence breast cancer risk. GeneReviews: Not available | |
| Genitopatellar syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-04-25) ClinGen Genome Curation PageHaploinsufficency 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 (74824936..75032624)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KAT6B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KAT6B@LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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