Aliases: El, LRRC35
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 4
Evidence score: 3
Associated Disorders: |
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Relevance to Autism
Two de novo loss-of-function (LoF) variant and a potentially damaging de novo missense variant in the TBCEL gene have been identified in ASD probands from the Simons Simplex Collection and the SPARK cohort (Satterstrom et al., 2020; Zhou et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified TBCEL as an ASD-associated gene with a false discovery rate (FDR) < 0.1.
Molecular Function
Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly.