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Relevance to Autism

DCUN1D1 (RP42) maps to an autism susceptibility locus on chromosome 6q16. Based on its developmentally regulated expression, particularly in proliferating neuroblasts, and its location in a cluster of embryonic neuronally expressed genes, it is a positional candidate susceptibility gene for autism (Mas et al., 2000).

Molecular Function

The encoded protein plays a role in the neddylation pathway.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16.
ASD
Highly Cited
The role of novel oncogenes squamous cell carcinoma-related oncogene and phosphatidylinositol 3-kinase p110alpha in squamous cell carcinoma of the ...
Recent Recommendation
The conserved protein DCN-1/Dcn1p is required for cullin neddylation in C. elegans and S. cerevisiae.

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Deletion
 1
 
3
Deletion
 2
 

No Animal Model Data Available



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