HDAC6
Homo sapiens
Gene Name: histone deacetylase 6
Aliases: JM21, HD6
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare Single Gene variant
Aliases: JM21, HD6
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A maternally-inherited silent variant in HDAC6 that resulted in partial skipping of exon 3 of the gene was detected in a male ASD patient (Piton et al., 2012).
Molecular Function
Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
ASD, SCZ
Support
MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors.
Support
A selective histone deacetylase-6 inhibitor improves BDNF trafficking in hippocampal neurons from Mecp2 knockout mice: implications for Rett syndrome.
Support
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.
Support
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Support
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated -tubulin defect which improves after iHDAC6 treatment in Rett s...
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN482R003
missense_variant
c.991G>A
p.Ala331Thr
Familial
Maternal
Simplex
GEN482R004
missense_variant
c.3248G>A
p.Gly1083Asp
Familial
Maternal
Simplex
Common
No Common Variants Available
