LP36884-2
CASR gene
Active
Descriptions
The CASR gene (calcium-sensing receptor) [HGNC Gene ID:1514] is located on chromosome 3q13. The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008] [NCBI Gene ID:846] Source: National Center for Biotechnology Information (NCBI) Gene
The CASR gene encodes a calcium-sensing receptor protein that is expressed in the parathyroid gland and binds extracellular calcium. If hypercalcemia occurs, the receptor activates the parathyroid G-protein pathway, which results in increased intracellular calcium levels and suppression of PTH gene transcription, and also increases renal calcium excretion. Inactivating CASR mutations result in various forms of hyperparathyroidism and hypercalcemia, while activating mutations lead to hypoparathyroidism and hypocalcemia. [NCBI Books: NBK279022] Source: Regenstrief LOINC
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
- CASR gene
- Part Display Name
- CASR gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-04-28
- Construct for LOINC Short Name
- CASR 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) | CASR 基因 Synonyms: CaSR; |
| et-EE | Estonian (Estonia) | CASR geen |
| es-ES | Spanish (Spain) | Gen CASR |
| it-IT | Italian (Italy) | CASR, gene Synonyms: Gene CASR |
| tr-TR | Turkish (Turkey) | CASR geni |
| ru-RU | Russian (Russian Federation) | CASR ген |
| nl-NL | Dutch (Netherlands) | CASR-gen Synonyms: CASR gen |
| fr-FR | French (France) | CASR gène |
| pl-PL | Polish (Poland) | CASR gen Synonyms: Gen CASR |
| el-GR | Greek (Greece) | Γονίδιο CASR Synonyms: Γονίδιο CASR |
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://