Aliases: DXS540, GGTA, HSD-32, REP-1, TCD
Chromosome No: X
Chromosome Band: Xq21.2
Genetic Category: Rare single gene variant
ASD Reports: 7
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 13
Evidence score: 3
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Relevance to Autism
A de novo splice-site variant in the CHM gene was identified in an ASD proband from (Yuen et al., 2017), while rare de novo non-coding variants in this gene have been identified in ASD probands from multiple studies (Michaelson et al., 2012; Turner et al., 2016; Yuen et al., 2017; Turner et al., 2017). More recently, a maternally-inherited missense variant in CHM was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020).
Molecular Function
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane.
External Links
