KAT8 Chromosome 16
Lysine acetyltransferase 8
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What This Gene Does
This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"MSL histone acetyltransferase complex|NSL histone acetyltransferase complex|MYST type domain containing lysine acetyltransferases|Zinc fingers MYST C2HC-type"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000103510
Associated Conditions (2)
Li-Ghorbani-Weisz-Hubshman syndrome
Inborn genetic diseases
Key Variants
RS572043246
Conflicting classifications of pathogenicity
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
RS2057483219
Likely pathogenic
Inborn genetic diseases, Li-Ghorbani-Weisz-Hubshman syndrome, Inborn genetic diseases
Health Risk
RS2143985614
Likely pathogenic
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
RS756211242
Likely pathogenic
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
RS2057538050
Pathogenic
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
RS2057538160
Pathogenic
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
RS2143966219
Pathogenic
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
RS2143966454
Pathogenic
Health Risk
RS2544163458
Pathogenic
Health Risk
RS2544163778
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748699921
Pathogenic
Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS572043246 | Health Risk | Conflicting classifications of pathogenicity | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |
| RS2057483219 | Health Risk | Likely pathogenic | Inborn genetic diseases, Li-Ghorbani-Weisz-Hubshman syndrome, Inborn genetic diseases |
| RS2143985614 | Health Risk | Likely pathogenic | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |
| RS756211242 | Health Risk | Likely pathogenic | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |
| RS2057538050 | Health Risk | Pathogenic | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |
| RS2057538160 | Health Risk | Pathogenic | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |
| RS2143966219 | Health Risk | Pathogenic | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |
| RS2143966454 | Health Risk | Pathogenic | — |
| RS2544163458 | Health Risk | Pathogenic | — |
| RS2544163778 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS748699921 | Health Risk | Pathogenic | Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome |