KAT6B Chromosome 10
Lysine acetyltransferase 6B
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What This Gene Does
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]
Gene Info
Gene Group
"PHD finger proteins|MYST type domain containing lysine acetyltransferases|Zinc fingers MYST C2HC-type"
Locus Type
gene with protein product
Location
10q22.2
Ensembl
ENSG00000156650
Associated Conditions (37)
Genitopatellar syndrome
Blepharophimosis - intellectual disability syndrome
SBBYS type
Inborn genetic diseases
Autosomal dominant KAT6B-related disorders
KAT6B-related disorder
9 conditions
Intellectual disability
Developmental disorder
KAT6B-related multiple congenital anomalies syndrome
Left ventricular noncompaction
Hypospadias
Seizure
Macrocephaly
Generalized joint hypermobility
Joint laxity
Delayed speech and language development
Hepatocellular carcinoma
10 conditions
Chromatinopathy
+17 more conditions
Key Variants
RS1014954135
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type
Health Risk
RS1019373559
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type
Health Risk
RS1054836015
Conflicting classifications of pathogenicity
Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome
Health Risk
RS1057520090
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Genitopatellar syndrome
Health Risk
RS11001247
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Genitopatellar syndrome
Health Risk
RS113566014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Genitopatellar syndrome, Inborn genetic diseases
Health Risk
RS1167009272
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type
Health Risk
RS1213787718
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Genitopatellar syndrome
Health Risk
RS1222902525
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Genitopatellar syndrome
Health Risk
RS1265658401
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Inborn genetic diseases, Genitopatellar syndrome
Health Risk
RS1273966358
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type
Health Risk
RS1274585455
Conflicting classifications of pathogenicity
Genitopatellar syndrome, Inborn genetic diseases, Genitopatellar syndrome
Health Risk
All Variants (262)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770674400 | Health Risk | Pathogenic | — |
| RS869312962 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886039742 | Health Risk | Pathogenic | — |
| RS886041207 | Health Risk | Pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type, Intellectual disability |
| RS886041540 | Health Risk | Pathogenic | — |
| RS886041883 | Health Risk | Pathogenic | — |
| RS906740657 | Health Risk | Pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type, Blepharophimosis - intellectual disability syndrome |
| RS924532501 | Health Risk | Pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome |
| RS199470480 | Health Risk | Pathogenic/Likely pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type, Blepharophimosis - intellectual disability syndrome |
| RS2134159699 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2549198858 | Health Risk | Pathogenic/Likely pathogenic | Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS863224883 | Health Risk | Pathogenic/Likely pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type, Blepharophimosis - intellectual disability syndrome |