ACTA1 Break Apart FISH Probe

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
ACTA1BA-20-REGO 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-REGR 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-ORGR 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-GOGR 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-GRRE 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-GROR 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-GRGO 20 (40 μL) 200 μL color color Request Pricing
ACTA1BA-20-AQOR 20 (40 μL) 200 μL color color Request Pricing

Gene Summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]

Gene Details

Gene Symbol : ACTA1

Gene Name : Actin, alpha 1, skeletal muscle

Chromosome : CHR 1: 229,434,095-229,431,244

Locus : 1q42.13

Alt. Genes : ZNF263

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