LP101390-5
CLCN5 gene
Active
Descriptions
Mutations in the CLCN5 gene have been noted in patients with Dent disease. Dent disease is characterized by low molecular weight proteinuria, hypercalciuria, kidney stones, calcification of renal tissue and progressive renal failure. Source: Regenstrief LOINC
The CLCN5 gene (chloride channel, voltage-sensitive 5) [HGNC Gene ID:2023] is located on chromosome Xp11.23-p11.22. This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] [NCBI Gene ID:1184] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- CLCN5 gene
- Part Display Name
- CLCN5 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-07-26
- Construct for LOINC Short Name
- CLCN5 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CLCN5 基因 Synonyms: 氯离子通道蛋白5; |
| et-EE | Estonian (Estonia) | CLCN5 geen |
| es-ES | Spanish (Spain) | Gen CLCN5 |
| it-IT | Italian (Italy) | CLCN5, gene Synonyms: Gene CLCN5 |
| tr-TR | Turkish (Turkey) | CLCN5 geni |
| ru-RU | Russian (Russian Federation) | CLCN5 ген |
| nl-NL | Dutch (Netherlands) | CLCN5-gen Synonyms: CLCN5 gen |
| fr-FR | French (France) | CLCN5 gène |
| pl-PL | Polish (Poland) | CLCN5 gen Synonyms: Gen CLCN5 |
| el-GR | Greek (Greece) | Γονίδιο CLCN5 Synonyms: Γονίδιο CLCN5 |
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://