PSMD10
Homo sapiens
Gene Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
Aliases: gankyrin, p28
Chromosome No: X
Chromosome Band: Xq22.3
Genetic Category: Rare Single Gene variant
Aliases: gankyrin, p28
Chromosome No: X
Chromosome Band: Xq22.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 12
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
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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
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.
Highly Cited
The oncoprotein gankyrin binds to MDM2/HDM2, enhancing ubiquitylation and degradation of p53.
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.
