Aliases: LHX, RAB2
Chromosome No: 8
Chromosome Band: 8q12.1-q12.2
Genetic Category: Rare single gene variant
ASD Reports: 8
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Two de novo variants (a nonsense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the RAB2A gene in ASD probands from the Simons Simplex Collection (Sanders et al., 2012; Iossifov et al., 2012). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 4.48E-06 (Takata et al., 2016).
Molecular Function
The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex.
External Links
