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DYSF - Gene Detail

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Gene Symbol DYSF
Synonyms FER1L1 | LGMD2B | LGMDR2 | MMD1
Gene Description DYSF, dysferlin, is a transmembrane protein and member of the ferlin family that binds Ca2+ and regulates Ca2+ homeostasis and signaling, and functions in membrane repair and vesicle trafficking in skeletal muscle (PMID: 27349407, PMID: 35156706). A DYSF-ALK fusion has been identified in lung adenocarcinoma (PMID: 29472060).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
8291 2 2p13.2 NM_003494 Unknown
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