CACNA1A
Overview
CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) encodes the pore-forming subunit of P/Q-type voltage-gated calcium channels, primarily expressed in neurons. Germline mutations cause familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. In cancer, CACNA1A has been identified as a recurrently structurally rearranged gene in rhabdomyosarcoma.
Alterations observed in the corpus
- Recurrently structural-variant (SV) affected in pediatric rhabdomyosarcoma (RMS); listed among additional recurrently SV-affected genes (with RPTOR, NRG1, and FOXP2) in the context of tyrosine kinase signaling and muscle development pathways PMID:24436047
Cancer types (linked)
- Rhabdomyosarcoma (RMS): recurrent structural rearrangement; exact frequency not specified; identified in a comprehensive genomic landscape study of 258 RMS samples PMID:24436047
Co-occurrence and mutual exclusivity
- Co-listed with RPTOR, NRG1, and FOXP2 as recurrently SV-affected genes; broader context of structural variation landscape in RMS including PAX3/PAX7-FOXO1 defining fusions PMID:24436047
Therapeutic relevance
- No targeted therapy data. The biological significance of CACNA1A rearrangements in a muscle/sarcoma context is unclear given its primary role in neuronal calcium channel function PMID:24436047
Open questions
- The functional consequence of CACNA1A structural rearrangements in RMS is unknown; it is unclear whether these represent driver events or bystander rearrangements PMID:24436047
Sources
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