LP185372-2
KCNJ11 gene
Active
Description
The KCNJ11 gene (potassium channel, inwardly rectifying subfamily J, member 11) [HGNC Gene ID:6257] is located on chromosome 11p15.1. Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] [NCBI Gene ID:3767] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- KCNJ11 gene
- Part Display Name
- KCNJ11 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-07-10
- Construct for LOINC Short Name
- KCNJ11
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | KCNJ11 基因 Synonyms: 内向整流钾通道, 亚家族 J, 成员 11; |
| es-ES | Spanish (Spain) | Gen KCNJ11 |
| it-IT | Italian (Italy) | KCNJ11, gene Synonyms: Gene KCNJ11 |
| tr-TR | Turkish (Turkey) | KCNJ11 geni |
| nl-NL | Dutch (Netherlands) | KCNJ11-gen Synonyms: KCNJ11 gen |
| fr-FR | French (France) | KCNJ11 gène |
| pl-PL | Polish (Poland) | KCNJ11 gen Synonyms: Gen KCNJ11 |
| el-GR | Greek (Greece) | Γονίδιο KCNJ11 Synonyms: Γονίδιο KCNJ11 |
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://