DAB1 Chromosome 1
DAB adaptor protein 1
Upload your DNA to see your personal genotypes for variants in DAB1.
What This Gene Does
The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]
Associated Conditions (2)
Spinocerebellar ataxia type 37
Spastic ataxia
Key Variants
RS199793708
Conflicting classifications of pathogenicity
Health Risk
RS376587394
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 37, Spinocerebellar ataxia type 37
Health Risk
RS570170859
Conflicting classifications of pathogenicity
Health Risk
RS1646774558
Likely pathogenic
Spastic ataxia, Spastic ataxia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199793708 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376587394 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 37, Spinocerebellar ataxia type 37 |
| RS570170859 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1646774558 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |