From: Support for calcium channel gene defects in autism spectrum disorders
Gene symbol (Chrom band) | Channel | Current typea | Most dominant brain expressed regiona | Cells and tissues with gene expression in addition to brain |
---|---|---|---|---|
Ca v 1 subfamily | ||||
CACNA1S (1q32) | Cav1.1 | L | MD | Skeletal muscle; transverse tubules |
CACNA1C (12p13.3) | Cav1.2 | L | MD | Cardiac myocytes; smooth muscle myocytes; endocrine cells; neurons |
CACNA1D (3p14.3) | Cav1.3 | L | NCX | Endocrine cells; neurons; cardiac cells and pacemaker cells; cochlear hair cells |
CACNA1F (Xp11.23) | CaV1.4 | L | Amygdala | Retina; spinal cord; adrenal gland; mast cells |
Ca v 2 subfamily | ||||
CACNA1A (19p13) | Cav2.1 | P/Q | CBC | Neurons |
CACNA1B (9q34) | Cav2.2 | N | MD | Neurons |
CACNA1E (1q25-q31) | Cav2.3 | R | Striatum | Neurons |
Ca v 3 subfamily | ||||
CACNA1G (17q21) | Cav3.1 | T | MD | Neurons; smooth muscle myocytes |
CACNA1H (16p13.3) | Cav3.2 | T | Striatum | Neurons; cardiac and smooth muscle myocytes |
CACNA1I (22q13.1) | Cav3.3 | T | NCX | Neurons |