Aliases: RP3-361I14.2, BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, HSAN6, MACF2
Chromosome No: 6
Chromosome Band: 6p12.1
Genetic Category: Rare single gene variant
ASD Reports: 11
Recent Reports: 0
Annotated variants: 27
Associated CNVs: 1
Evidence score: 3
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Relevance to Autism
Five case-specific loss-of-function variants were identified in the DST gene following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013).
Molecular Function
Cytoskeletal linker protein that acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Isoform 7 regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Defects in this gene are associated with hereditary sensory and autonomic neuropathy 6 (HSAN6) [MIM:614653], a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities.
External Links
