Aliases: CG22, CKAP1, CKAPI
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 3
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Morag et al., 2025 described a cohort of ten individuals from eight families of Ashkenazi descent, all with the same homozygous missense variant in the TBCB gene (p.Tyr197Asn) and presenting with a neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and late childhood-onset spastic paraparesis; patient-derived fibroblasts displayed reduced TBCB expression. Additional functional assessment of the p.Tyr197Asn variant using the S. cerevisiae orthologue ALF1 found that mutant ALF1 resulted in increased benomyl sensitivity in yeast, resembling a loss-of-function phenotype, while the homologous mutant in Drosophila led to reduced survival and impaired climbing ability. De novo missense variants in TBCB have also been identified in ASD probands from the Simons Simplex Collection and the SPARK cohort (Iossifov et al., 2014; Zhou et al., 2022).
Molecular Function
Predicted to enable microtubule plus-end binding activity. Predicted to be involved in cytoplasmic microtubule organization. Located in cytosol.
External Links
