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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
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
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated -tubulin defect which improves after iHDAC6 treatment in Rett s...
Support
The Role of Histone Deacetylase 6 in Synaptic Plasticity and Memory.
Support
MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN482R001 
 splice_site_variant 
 c.117C>T 
 p.Ala39= 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 12
 
X
Duplication
 5
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
DOCK5 dedicator of cytokinesis 5 80005 Q68DL4 IP; LC-MS/MS
Huttlin EL , et al. 2015
HDAC9 histone deacetylase 9 9734 Q9UKV0 IP/WB
Salian-Mehta S , et al. 2015
KCNAB3 Voltage-gated potassium channel subunit beta-3 9196 O43448 IP; LC-MS/MS
Huttlin EL , et al. 2015
LPIN3 E9PG51 IP; LC-MS/MS
Huttlin EL , et al. 2015
MCM7 minichromosome maintenance complex component 7 4176 P33993 IP; LC-MS/MS
Huttlin EL , et al. 2015
NOS2 nitric oxide synthase 2, inducible 4843 P35228 IP/WB
Sha Y , et al. 2008
SLX1A Structure-specific endonuclease subunit SLX1 548593 Q9BQ83 IP; LC-MS/MS
Huttlin EL , et al. 2015
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 92609 Q3ZCQ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
TULP2 Tubby-related protein 2 7288 O00295 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 84993 Q96S82 IP; LC-MS/MS
Huttlin EL , et al. 2015

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