LP36620-0
KCNQ1 gene
Active
Description
The KCNQ1 gene (potassium channel, voltage gated KQT-like subfamily Q, member 1) [HGNC Gene ID:6294] is located on chromosome 11p15.5. This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] [NCBI Gene ID:3784] 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
- KCNQ1 gene
- Part Display Name
- KCNQ1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-02-16
- Construct for LOINC Short Name
- KCNQ1 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) | KCNQ1 基因 Synonyms: ATFB1; |
| et-EE | Estonian (Estonia) | KCNQ1 geen |
| es-ES | Spanish (Spain) | Gen KCNQ1 |
| it-IT | Italian (Italy) | KCNQ1, gene Synonyms: Gene KCNQ1 |
| tr-TR | Turkish (Turkey) | KCNQ1 geni |
| ru-RU | Russian (Russian Federation) | KCNQ1 ген |
| nl-NL | Dutch (Netherlands) | KCNQ1-gen Synonyms: KCNQ1 gen |
| fr-FR | French (France) | KCNQ1 gène |
| pl-PL | Polish (Poland) | KCNQ1 gen Synonyms: Gen KCNQ1 |
| el-GR | Greek (Greece) | Γονίδιο KCNQ1 Synonyms: Γονίδιο KCNQ1 |
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://