KAT5 Chromosome 11
Lysine acetyltransferase 5
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What This Gene Does
The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MYST type domain containing lysine acetyltransferases|Tip60/Nua4 histone acetyltransferase complex subunits|Zinc fingers MYST C2HC-type"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000172977
Associated Conditions (3)
Neurodevelopmental disorder with dysmorphic facies
sleep disturbance
and brain abnormalities
Key Variants
RS145568166
Conflicting classifications of pathogenicity
Health Risk
RS777887005
Conflicting classifications of pathogenicity
Health Risk
RS1857071943
Pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Health Risk
RS1857215256
Pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Health Risk
RS1857290083
Pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145568166 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777887005 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1857071943 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |
| RS1857215256 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |
| RS1857290083 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |