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Relevance to Autism

Rare mutations in the PSMD10 gene have been identified with autism (Piton et al., 2011).

Molecular Function

This gene encodes a non-ATPase proteasome subunit of the 19S regulator involved in protein degradation

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Highly Cited
The oncoprotein gankyrin binds to MDM2/HDM2, enhancing ubiquitylation and degradation of p53.
Highly Cited
MAGE-A4 interacts with the liver oncoprotein gankyrin and suppresses its tumorigenic activity.
Highly Cited
Reduced stability of retinoblastoma protein by gankyrin, an oncogenic ankyrin-repeat protein overexpressed in hepatomas.
Recent Recommendation
Multiple proteasome-interacting proteins assist the assembly of the yeast 19S regulatory particle.
Recent Recommendation
Chaperone-mediated pathway of proteasome regulatory particle assembly.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN202R001 
 missense_variant 
 c.514G>A 
 p.Gly172Ser 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 13
 

No Animal Model Data Available

 

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