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gene: INA

id9118
symbolINA
organismHomo sapiens
full nameinternexin neuronal intermediate filament protein alpha
summaryNeurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]
variant-disease

NM_032727.4(INA):c.799G>A (p.Glu267Lys) AND Severe Myopia

NM_032727.4(INA):c.562G>A (p.Gly188Arg) AND Abnormality of brain morphology

GRCh37/hg19 10q24.33(chr10:105035441-105048455)x3 AND See cases

GRCh37/hg19 10q24.33(chr10:105045727-105206874)x3 AND See cases

GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3 AND not provided

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