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Calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H)
- Target
- CACNA1H
- Molecular classification
- Ion channel, Voltage-gated calcium channel, T-type calcium channel
01
Overview
Calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H) encodes the alpha-1H subunit of T-type (low-voltage-activated) calcium channels, which mediate the influx of calcium ions into excitable cells in response to membrane depolarization. The CACNA1H-encoded Cav3.2 channel plays a critical role in neuronal pacemaking, regulation of firing patterns, secretory cell function, and aldosterone synthesis in the adrenal cortex. Genetic variants in CACNA1H have been associated with epilepsy, autism spectrum disorder, and endocrine disorders such as early-onset hypertension due to primary aldosteronism; however, the evidence for direct monogenic causation in most neurodevelopmental disorders is limited, and its pathogenic roles are sometimes considered risk-modifying rather than causative.
- Other names
- Cav3.2Voltage-dependent T-type calcium channel subunit alpha-1HLow-voltage-activated calcium channel alpha1 3.2 subunitCACNA1HBVoltage-gated calcium channel subunit alpha Cav3.2Calcium voltage-gated channel subunit alpha1 HCalcium channel, voltage-dependent, T type, alpha 1Hb subunit
02
Mechanism of action
Inhibition of the T-type calcium channel, reducing neuronal excitability and abnormal rhythmic firing (anticonvulsant action) Blockade of calcium influx to modulate aldosterone production in adrenal tissue
03
Biological functions
Mediation of calcium influx upon membrane depolarizationPacemaking in central neurons and cardiac nodal cellsRegulation of neuronal firing patternsSupport of calcium signaling in secretory cells and vascular smooth muscle
04
Disease associations
Epilepsy (especially childhood absence epilepsy, idiopathic generalized epilepsy)Autism spectrum disorderNeurodevelopmental disordersHyperaldosteronism (early-onset hypertension due to primary aldosteronism)
05
Safety considerations
Potential for cardiac or vascular side effects due to role in pacemaking and vascular tonePossible neurological side effects (e.g., sedation, cognitive effects) if channels are excessively inhibitedLow specificity and incomplete clinical validation of the target in some disease contexts
06
Interacting drugs
Zonisamide
2 more in the full profile.
07
Biomarkers
Mutations (e.g., M1549V) as genetic markers for early-onset hypertension due to primary aldosteronismRare variants as risk factors in some cases of epilepsy and autism (investigational; not established clinical biomarkers)
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