LP19785-2

CACNA1A gene

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Description

The CACNA1A gene (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) [HGNC Gene ID:1388] is located on chromosome 19p13. 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, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] [NCBI Gene ID:773] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type	Source	Reference
Webcontent	Online Mendelian Inheritance in Man^®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.	Link to OMIM

Basic Part Properties

Part Name: CACNA1A gene
Part Display Name: CACNA1A gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2000-05-04
Construct for LOINC Short Name: CACNA1A gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:1388	CACNA1A
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	773	CACNA1A

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Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	CACNA1A 基因 Synonyms: APCA;Ataxia-6;CACH4;CACN3;CACNL1A4;EA2;FHM;HPCA;MHP;MHP1;SCA6;脊髓小脑共济失调;脊髓小脑共济失调 6 型基因;脊髓小脑性共济失调;钙离子通道, 电压依赖, P/Q 型, alpha 1A 亚单位;钙离子通道, 电压依赖, P/Q 型, alpha 1A 亚基;钙离子通道, 电压依赖, P/Q型, α1A 亚单位;钙离子通道, 电压依赖, P/Q型, α1A 亚基;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚单位;钙离子通道,
et-EE	Estonian (Estonia)	CACNA1A geen
es-ES	Spanish (Spain)	Gen CACNA1A
it-IT	Italian (Italy)	CACNA1A, gene Synonyms: Gene CACNA1A
tr-TR	Turkish (Turkey)	CACNA1A geni
ru-RU	Russian (Russian Federation)	CACNA1A ген
nl-NL	Dutch (Netherlands)	CACNA1A-gen Synonyms: CACNA1A gen
fr-FR	French (France)	CACNA1A gène
pl-PL	Polish (Poland)	CACNA1A gen Synonyms: Gen CACNA1A
el-GR	Greek (Greece)	Γονίδιο CACNA1A Synonyms: Γονίδιο CACNA1A

LOINC Copyright

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