RAB43
Homo sapiens
Gene Name: RAB43, member RAS oncogene family
Aliases: RAB11B, RAB41
Chromosome No: 3
Chromosome Band: 3q21.3
Genetic Category: Rare single gene variant
Aliases: RAB11B, RAB41
Chromosome No: 3
Chromosome Band: 3q21.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 1
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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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
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
