From NCBI Gene: Sinoatrial node dysfunction and deafnessPrimary aldosteronism, seizures, and neurologic abnormalitiesFrom UniProt: Sinoatrial node dysfunction and deafness (SANDD): A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. [MIM:614896] Primary aldosteronism, seizures, and neurologic abnormalities (PASNA): A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. [MIM:615474]

     From NCBI Gene: Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] From UniProt: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).

The following transcription factors affect gene expression:

• CREB
• deltaCREB
• Nkx2-5

Tissue specificity:

Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle.

Molecular Function:

• Alpha-Actinin Binding
• Ankyrin Binding
• High Voltage-Gated Calcium Channel Activity
• Metal Ion Binding
• Voltage-Gated Calcium Channel Activity
• Voltage-Gated Calcium Channel Activity Involved In Cardiac Muscle Cell Action Potential
• Voltage-Gated Calcium Channel Activity Involved Sa Node Cell Action Potential

Biological Processes:

• Adenylate Cyclase-Modulating G-Protein Coupled Receptor Signaling Pathway
• Calcium Ion Import
• Calcium Ion Transmembrane Transport
• Calcium Ion Transport
• Cardiac Conduction
• Membrane Depolarization During Cardiac Muscle Cell Action Potential
• Membrane Depolarization During Sa Node Cell Action Potential
• Positive Regulation Of Calcium Ion Transport
• Regulation Of Atrial Cardiac Muscle Cell Membrane Repolarization
• Regulation Of Heart Rate By Cardiac Conduction
• Regulation Of Insulin Secretion
• Regulation Of Potassium Ion Transmembrane Transport
• Regulation Of Potassium Ion Transmembrane Transporter Activity
• Sensory Perception Of Sound

Drug Bank:

• Cinnarizine
• Dronedarone
• Ethanol
• Felodipine
• Isradipine
• Nicardipine
• Nilvadipine
• Nimodipine
• Nisoldipine
• Nitrendipine
• Spironolactone
• Amlodipine
• Clevidipine
• Nifedipine
• Verapamil