LP61784-2
MVK gene
Active
Description
The MVK gene (mevalonate kinase) [HGNC Gene ID:7530] is located on chromosome 12q24. This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] [NCBI Gene ID:4598] 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
- MVK gene
- Part Display Name
- MVK gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-12-12
- Construct for LOINC Short Name
- MVK 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) | MVK 基因 Synonyms: LRBP; |
| et-EE | Estonian (Estonia) | MVK geen |
| es-ES | Spanish (Spain) | Gen MVK |
| it-IT | Italian (Italy) | MVK, gene Synonyms: Gene MVK |
| tr-TR | Turkish (Turkey) | MVK geni |
| ru-RU | Russian (Russian Federation) | MVK ген |
| nl-NL | Dutch (Netherlands) | MVK-gen Synonyms: MVK gen |
| fr-FR | French (France) | MVK gène |
| pl-PL | Polish (Poland) | MVK gen Synonyms: Gen MVK |
| el-GR | Greek (Greece) | Γονίδιο MVK Synonyms: Γονίδιο MVK |
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://