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MFN2 mitofusin 2

Gene ID: 9927, updated on 25-Jan-2022
Gene type: protein coding
Also known as: HSG; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B

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]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2017-02-02)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2017-02-02)

ClinGen Genome Curation Page

Genomic context

Location:
1p36.22
Sequence:
Chromosome: 1; NC_000001.11 (11980215..12013508)
Total number of exons:
20

Links

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