mProX™ Human CACNA1D Stable Cell Line

Product Information

Target Protein

CACNA1D

Target Family

Voltage Gated Calcium Channel

Target Protein Species

Human

Host Cell Type

tsA-201; CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

Auditory and Otology Research; CNS Research

Related Diseases

Primary Aldosteronism; Seizures; Deafness

Gene ID

776

UniProt ID

Q01668

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The CACNA1D gene is a member of a group of genes that give instructions on how to create calcium channels. One component of a calcium channel called CaV1.3, the alpha-1 subunit, is made according to instructions from the CACNA1D gene. This component creates the pore (hole) that allows calcium ions to pass through. Although CaV1.3 channels are present in many different types of cells, the adrenal glands-small hormone-producing glands situated on top of each kidney-play a special role for them. The production of the hormone aldosterone, which lowers blood pressure by ensuring that the body's salt and fluid levels are balanced, is thought to be regulated in part by the calcium influx through CaV1.3 channels in the adrenal glands. The inner ear, heart, and brain all have CaV1.3 channels. The customized CACNA1D stable cell line can be used in antibody discovery and development, potential drug candidate screening and signaling pathway researches.

Protocols

Please visit our protocols page.

Customer Reviews

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FAQ

chat Michelle (Verified Customer)

Can CACNA1D polymorphisms affect emotional memory components? Apr 25 2020

chat Sherry Smith (Creative Biolabs Scientific Support)

Yes, certain CACNA1D polymorphisms have been linked to influencing components of human emotional memory, particularly in relation to rewarding expressions. Apr 25 2020

chat Jennifer (Verified Customer)

How does CACNA1D influence physiological processes? Jul 26 2020

chat Sherry Smith (Creative Biolabs Scientific Support)

CACNA1D is involved in the regulation of neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Jul 26 2020

Published Data

Fig.1 Functional consequences of CACNA1D mutations on Cav1.3 channel function.

Expression in tsA-201 cells, voltage dependency of steady-state inactivation (I/Icontrol) and activation (G/Gmax) of Cav1.3 wild-type and Cav1.3 mutants Val259Asp and Ile750Met.

Ref: Azizan, Elena AB, et al. "Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension." Nature genetics 45.9 (2013): 1055-1060.

Pubmed: 23913004

DOI: 10.1038/ng.2716

Research Highlights

Voltage-gated L-type calcium channels (LTCCs), Cav1.3, are a component of signaling networks within postsynaptic neurons. They are essential for brain function, which includes fear memory, emotional responses, and drug use.
Pinggera, Alexandra, et al. "CACNA1D de novo mutations in autism spectrum disorders activate Cav1. 3 L-type calcium channels." Biological psychiatry 77.9 (2015): 816-822.
Pubmed: 25620733 DOI: 10.1016/j.biopsych.2014.11.020

The pore-forming α1-subunit of Cav1.3, an L-type voltage-gated Ca2+ channel, is encoded by CACNA1D. Large-scale genetic investigations have not regarded CACNA1D as a notable ASD-risk gene because they mainly concentrate on genetic variations that are likely to cause disruption.
Pinggera, Alexandra, et al. "New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy." Human molecular genetics 26.15 (2017): 2923-2932.
Pubmed: 28472301 DOI: 10.1093/hmg/ddx175