HDAC6 Chromosome X
Histone deacetylase 6
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What This Gene Does
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|Protein phosphatase 1 regulatory subunits|Histone deacetylases, class IIB"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000094631
Associated Conditions (3)
HDAC6-related disorder
X-linked dominant chondrodysplasia
Chassaing-Lacombe type
Key Variants
RS141268593
Conflicting classifications of pathogenicity
Health Risk
RS201845777
Conflicting classifications of pathogenicity
HDAC6-related disorder, HDAC6-related disorder
Health Risk
RS367767249
Conflicting classifications of pathogenicity
Health Risk
RS376875887
Conflicting classifications of pathogenicity
X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia
Health Risk
RS993813895
Conflicting classifications of pathogenicity
Health Risk
RS2519445322
Likely pathogenic
X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia
Health Risk
RS2519366970
Pathogenic
X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia
Health Risk
RS398122390
Pathogenic
X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141268593 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201845777 | Health Risk | Conflicting classifications of pathogenicity | HDAC6-related disorder, HDAC6-related disorder |
| RS367767249 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376875887 | Health Risk | Conflicting classifications of pathogenicity | X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia |
| RS993813895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2519445322 | Health Risk | Likely pathogenic | X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia |
| RS2519366970 | Health Risk | Pathogenic | X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia |
| RS398122390 | Health Risk | Pathogenic | X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia |