This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MYO5A-20-RE | 20 (40 μL) | 200 μL |  |
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| MYO5A-20-OR | 20 (40 μL) | 200 μL |  |
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| MYO5A-20-GO | 20 (40 μL) | 200 μL |  |
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| MYO5A-20-GR | 20 (40 μL) | 200 μL |  |
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| MYO5A-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
Gene Symbol : MYO5A
Gene Name : Myosin VA
Chromosome : CHR 15: 525,290,49-523,072,82
Locus : 15q21.2
Alt. Genes : CELA3A
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