Aliases: HSPC176, PERRB
Chromosome No: 16
Chromosome Band: 16q24.3
Genetic Category: Syndromic-Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 8
Evidence score: 2
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the TRAPPC2L gene (Bonferroni-corrected cluster P-value of 2.09E-02).
Molecular Function
This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. Biallelic variants in this gene are responsible for early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB; OMIM 618331) (Milev et al., 2018; Al-Deri et al., 2020).
External Links
