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gene: NEFM

id4741
symbolNEFM
organismHomo sapiens
full nameneurofilament medium
summaryNeurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
variant-disease

NM_005382.2(NEFM):c.1104T>C (p.Asn368=) AND not provided

NM_005382.2(NEFM):c.2485_2487delGTT (p.Val830del) AND not provided

NM_005382.2(NEFM):c.1420A>G (p.Thr474Ala) AND not provided

NM_005382.2(NEFM):c.2089G>C (p.Gly697Arg) AND not provided

NM_005382.2(NEFM):c.2572G>A (p.Val858Ile) AND not provided

... 77 more


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