2006年2月15日 · CACNA1C encodes voltage-dependent L-type calcium channel subunit alpha-1C (CACNA1C), which is involved in the embryologic development of several organs and processes including the central nervous system [Panagiotakos et al 2019], the bones [Ramachandran et al 2013, Atsuta et al 2019], and glucose metabolism [Pan et al 2016].

2025年3月28日 · CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C) is a Protein Coding gene. Diseases associated with CACNA1C include Timothy Syndrome and Long Qt Syndrome 8. Among its related pathways are DREAM Repression and Dynorphin Expression and TCR Signaling (Qiagen).

The CACNA1C gene provides instructions for making one of several calcium channels. Calcium channels, which transport positively charged calcium atoms (calcium ions) into cells, play a …

Calcium channel, voltage-dependent, L type, alpha 1C subunit (also known as Cav1.2) is a protein that in humans is encoded by the CACNA1C gene. [5] . Ca v 1.2 is a subunit of L-type voltage-dependent calcium channel. [6] This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel.

2025年2月8日 · Reviving Cav1.2 as an attractive drug target to treat bladder dysfunction. CACNA1C is a prognostic predictor for patients with ovarian cancer.

The CACNA1C gene encodes the calcium voltage-gated channel subunit alpha1 C, also known as subunit Cav1.2, primarily located in neuronal synapses and dendrites of the brain and cardiac muscles.

CACNA1C encodes the Cav1.2 subunit of voltage-gated calcium channels, which themselves have been functionally implicated in a broad spectrum of neuropsychiatric syndromes. Research has concentrated on uncovering the underlying biological mechanisms that could be responsible for this increased risk.

Here, we expand the cardiac phenotypes of CACNA1C pathogenic variants with the description of a four‐generation family harboring the p.R518C CACNA1C variant that segregated with phenotypes in a highly penetrant autosomal dominant manner.

2016年3月24日 · Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

The CACNA1C gene encodes multiple isoforms of the pore-forming alpha-1C subunit of the long-lasting (L-type) voltage-gated calcium channel CaV1.2.