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Relevance to Autism

Two de novo missense variants in the RAB43 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=1.10 x 10-3) (Iossifov et al., 2014; Krumm et al., 2015).

Molecular Function

The protein encoded by the RAB43 gene is involved in retrograde transport from the endocytic pathway to the Golgi apparatus and required for the structural integrity of the Golgi complex.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN725R001 
 missense_variant 
 c.48T>A 
 p.Asp16Glu 
 De novo 
 NA 
 Simplex 
 GEN725R002 
 missense_variant 
 c.236G>A 
 p.Arg79Gln 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 16
 

No Animal Model Data Available

 

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