Gene: CACNA1D

Alternate names for this Gene: CACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3|PASNA|SANDD

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: calcium voltage-gated channel subunit alpha1 D

Type of Gene: protein-coding

Gene: CHDH

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: choline dehydrogenase

Type of Gene: protein-coding

rs14165 in CACNA1D;CHDH gene and Abnormality of refraction PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs14165 in CACNA1D;CHDH gene and Refractive Errors PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.