Inferred by orthology to human genes with DO annotation (HGNC:1388)
Disease_relevance
Mutations in the human calcium channel CACNA1A (Calcium channel, voltage-dependent, P/Q type, alpha-1A subunit) are associated with Episodic ataxia (type 2), which affects the nervous system, resulting in migraines, vision and speech defects, and muscle weakness; mutations in CACNA1A also cause Spinocerebellar ataxia (type 6), a progressive movement disorder; voltage dependent calcium channels mediate calcium entry into cells and are involved in several calcium dependent processes; genetic studies in elegans show that unc-2, the ortholog of CACNA1A, negatively modulates a transforming growth factor (TGF)-beta pathway to affect certain phenotypes like movement, and for the normal accumulation of serotonin levels; further, unc-2 dependent inhibition of the TGF-beta pathway regulates the transcriptional expression of trytophan hydroxylase (tph-1) in serotonergic neurons under stress conditions like starvation and raised temperature; a construct expressing human CACNA1A can substitute for unc-2 function in elegans.