LP34972-7
MFN2 gene
Active
Description
The MFN2 gene (mitofusin 2) [HGNC Gene ID:16877] is located on chromosome 1p36.22. This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9927] 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 Display Name
- MFN2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-01-03
- Construct for LOINC Short Name
- MFN2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MF2 基因 Synonyms: Charcot-Marie Tooth 病, 2A 型; |
| et-EE | Estonian (Estonia) | MFN2 geen |
| es-ES | Spanish (Spain) | Gen MFN2 |
| it-IT | Italian (Italy) | MFN2, gene Synonyms: Gene MFN2 |
| tr-TR | Turkish (Turkey) | MFN2 geni |
| ru-RU | Russian (Russian Federation) | MFN2 ген |
| nl-NL | Dutch (Netherlands) | MFN2-gen Synonyms: MFN2 gen |
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