QuickView for Mfn2 (gene)

Gene Symbol:

MFN2 Homo sapiens

Full name:

mitofusin 2

Synonyms:

CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, mitofusin-2, hyperplasia suppressor, mitochondrial assembly regulatory factor, transmembrane GTPase MFN2

Genomic Location:

Chr 1: 11962956-11996152

Description:

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 Ch...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTANTCA_UNKNOWN ,  PEA3_Q6 ,  CTTTGA_LEF1_Q2 ,  LEF1_Q2 ,  GGGYGTGNY_UNKNOWN ,  ACTAYRNNNCCCR_UNKNOWN ,  MGGAAGTG_GABP_B ,  GKCGCNNNNNNNTGAYG_UNKNOWN ,  ETF_Q6 ,  TGASTMAGC_NFE2_01

Cytogenetic Map:

1p36.22

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