LP62803-9
CLCN1 gene
Active
Description
The CLCN1 gene (chloride channel, voltage-sensitive 1) [HGNC Gene ID:2019] is located on chromosome 7q35. The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] [NCBI Gene ID:1180] 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
- CLCN1 gene
- Part Display Name
- CLCN1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-03-15
- Construct for LOINC Short Name
- CLCN1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CLCN1 基因 Synonyms: CLC1; |
| et-EE | Estonian (Estonia) | CLCN1 geen |
| es-ES | Spanish (Spain) | Gen CLCN1 |
| it-IT | Italian (Italy) | CLCN1, gene Synonyms: Gene CLCN1 |
| tr-TR | Turkish (Turkey) | CLCN1 geni |
| ru-RU | Russian (Russian Federation) | CLCN1 ген |
| nl-NL | Dutch (Netherlands) | CLCN1-gen Synonyms: CLCN1 gen |
| fr-FR | French (France) | CLCN1 gène |
| pl-PL | Polish (Poland) | CLCN1 gen Synonyms: Gen CLCN1 |
| el-GR | Greek (Greece) | Γονίδιο CLCN1 Synonyms: Γονίδιο CLCN1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://