DUSP22
Homo sapiens
Gene Name: dual specificity phosphatase 22
Aliases: RP11-328C17.1, JKAP, JSP1, LMWDSP2, MKPX, VHX
Chromosome No: 6
Chromosome Band: 6p25.3
Genetic Category: Rare Single Gene variant
Aliases: RP11-328C17.1, JKAP, JSP1, LMWDSP2, MKPX, VHX
Chromosome No: 6
Chromosome Band: 6p25.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
A rare DUSP22 deletion was found in a patient with autism and mild intellectual disability (Leblond et al., 2012).
Molecular Function
This protein activates the Jnk signaling pathway. It dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
