Version 2.78

Description

The CACNA1S gene (calcium channel, voltage-dependent, L type, alpha 1S subunit) [HGNC Gene ID:1397] is located on chromosome 1q32. This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] [NCBI Gene ID:779] 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 Display Name
CACNA1S gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
CACNA1S gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19671-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19671-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CACA1S 基因
Synonyms: CACH1;CACN1;CACNL1A3;DHP 受体;HOKPP;HypoPP;MHS5;低血钾型周期性麻痹;低钾周期性麻痹;低钾性周期性瘫痪;低钾性周期性麻痹;恶性体温过高敏感性 5;恶性高温敏感性 5;恶性高温综合征敏感性 5;恶性高热敏感性 5;恶性高热症敏感性 5;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚单位;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚基;钙离子通道, 电压依赖式, P/Q 型, α 1A 亚单位;钙离子通道, 电压依赖式, P/Q 型,
et-EE Estonian (Estonia) CACNA1S geen
es-ES Spanish (Spain) Gen CACNA1S
it-IT Italian (Italy) CACNA1S, gene
Synonyms: Gene CACNA1S
tr-TR Turkish (Turkey) CACNA1S geni
ru-RU Russian (Russian Federation) CACNA1S ген
nl-NL Dutch (Netherlands) CACNA1S-gen
Synonyms: CACNA1S gen