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CACNA2D1

CACNA2D1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CACNA2D1 gene?

The official name of this gene is “calcium channel, voltage-dependent, alpha 2/delta subunit 1.”

CACNA2D1 is the gene's official symbol. The CACNA2D1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CACNA2D1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

From UniProtThis link leads to a site outside Genetics Home Reference.:

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling.

How are changes in the CACNA2D1 gene related to health conditions?

Genetics Home Reference provides information about malignant hyperthermia, which is associated with changes in the CACNA2D1 gene.
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the CACNA2D1 gene and its association with health conditions.
OMIM
Number
Title

Where is the CACNA2D1 gene located?

Cytogenetic Location: 7q21-q22

Molecular Location on chromosome 7: base pairs 81,946,443 to 82,443,714

The CACNA2D1 gene is located on the long (q) arm of chromosome 7 between positions 21 and 22.

The CACNA2D1 gene is located on the long (q) arm of chromosome 7 between positions 21 and 22.

More precisely, the CACNA2D1 gene is located from base pair 81,946,443 to base pair 82,443,714 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CACNA2D1?

You and your healthcare professional may find the following resources about CACNA2D1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CACNA2D1 gene or gene products?

  • CACNA2
  • CACNL2A
  • CCHL2A
  • LINC01112
  • lncRNA-N3

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CACNA2D1?

alternate splicing ; calcium ; cardiac ; cell ; channel ; contraction ; gene ; ions ; mediate ; splicing ; subunit ; syndrome ; transcript ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 22, 2014