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Mitofilin is a transmembrane protein of the inner mitochondrial membrane and it is associated with a large multimeric protein complex of about 1200 kDa. Mitofilin has critical functions in mitochondrial morphology and mitochondrial fusion and fission, specifically in the formation of tubular cristae and cristae junctions. Abnormal mitochondrial morphology has been implicated in many human diseases such as myopathy, cardiomyopathy, rhabdomyosarcoma and Whartin's tumor.
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Protein Aliases: Cell proliferation-inducing gene 4/52 protein; cell proliferation-inducing protein 52; IMMT antibody; immt {ECO:0000312|EMBL:AAI05842.1, ECO:0000312|RGD:1310684}; MICOS complex subunit MIC60; mitochondrial inner membrane organizing system 2; Mitochondrial inner membrane protein; mitochondrial inner membrane protein {ECO:0000250|UniProtKB:Q8CAQ8, ECO:0000312|EMBL:AAI05842.1}; Mitofilin; mitofilin {ECO:0000250|UniProtKB:Q8CAQ8}; motor protein; p87/89; p87/89 antibody; proliferation-inducing gene 4
Gene Aliases: 1700082C19Rik; D830041H16Rik; HMP; IMMT; MIC60; MINOS2; P87; P87/89; P89; PIG4; PIG52
UniProt ID: (Human) Q16891, (Rat) Q3KR86, (Mouse) Q8CAQ8
Entrez Gene ID: (Human) 10989, (Rat) 312444, (Mouse) 76614
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