MFN2 mitofusin 2
Gene ID: 9927, updated on 27-Nov-2024Gene type: protein coding
Also known as: HSG; MSL; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B
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- Go to complete Gene record for MFN2
- Go to Variation Viewer for MFN2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 2A2 MedGen: C4721887OMIM: 609260GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, MFN2 Hereditary Motor and Sensory Neuropathy | See labs |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | See labs |
| Multiple symmetric lipomatosis | not available |
| Neuropathy, hereditary motor and sensory, type 6A | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2017-02-02) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2017-02-02) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1p36.22
- Sequence:
- Chromosome: 1; NC_000001.11 (11980444..12013508)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MFN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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