Immunogen sequence: QVQQELSGTF AHLCQQVDIT RDNLEQEIAA MNKKVEALDS LQSRAKLLRN KAGWLDSELN MFTHQYLQPS R; Positive Samples: Mouse brain, Rat brain; Cellular Location: Mitochondrion outer membrane, Multi-pass membrane protein
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: HSG protein; hyperplasia suppressor; hypertension related protein 1; hypertension-related protein; Hypertension-related protein 1; Mitochondrial assembly regulatory factor; mitochondrial transmembrane GTPase FZO1A; Mitofusin-2; Transmembrane GTPase MFN2
Gene Aliases: CMT2A; CMT2A2; CPRP1; D630023P19Rik; Fzo; HMSN6A; HSG; KIAA0214; MARF; MFN2