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Sequence of this protein is as follows: FKRQFVEHAS EKLQLVISYT GSNCSHQVQQ ELSGTFAHLC QQVDVTRENL EQEIAAMNKK IEVLDSLQSK AKLLRNKAGW LDSELNMFTH QYLQPSR
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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Protein Aliases: CPRP 1; hyperplasia suppressor; hypertension-related protein; MFN 2; mitochondrial assembly regulatory factor; mitochondrial transmembrane GTPase FZO1A; Mitofusin-2; Mitofusin2; Transmembrane GTPase MFN2
Gene Aliases: CMT2A; CMT2A2; CPRP1; HMSN6A; HSG; KIAA0214; MARF; MFN2
UniProt ID: (Human) O95140
Entrez Gene ID: (Human) 9927, (Rat) 64476
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