CAMSAP1 Chromosome 9
Calmodulin regulated spectrin associated protein 1
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What This Gene Does
Enables microtubule minus-end binding activity and spectrin binding activity. Involved in several processes, including neuron projection development; regulation of cell morphogenesis; and regulation of microtubule polymerization. Located in microtubule minus-end. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
CAMSAP family
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000130559
Associated Conditions (4)
CAMSAP1-related neuronal migration disorder
Cortical dysplasia
complex
with other brain malformations 12
Key Variants
RS2491263069
Conflicting classifications of pathogenicity
CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex
Health Risk
RS1835459356
Likely pathogenic
CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex
Health Risk
RS1835535749
Likely pathogenic
CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex
Health Risk
RS2491269542
Likely pathogenic
CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex
Health Risk
RS1417914545
Pathogenic/Likely pathogenic
CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex
Health Risk
RS2491236071
Pathogenic/Likely pathogenic
CAMSAP1-related neuronal migration disorder, CAMSAP1-related neuronal migration disorder
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2491263069 | Health Risk | Conflicting classifications of pathogenicity | CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex |
| RS1835459356 | Health Risk | Likely pathogenic | CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex |
| RS1835535749 | Health Risk | Likely pathogenic | CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex |
| RS2491269542 | Health Risk | Likely pathogenic | CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex |
| RS1417914545 | Health Risk | Pathogenic/Likely pathogenic | CAMSAP1-related neuronal migration disorder, Cortical dysplasia, complex |
| RS2491236071 | Health Risk | Pathogenic/Likely pathogenic | CAMSAP1-related neuronal migration disorder, CAMSAP1-related neuronal migration disorder |