This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
EFHC1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
EFHC1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
EFHC1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
EFHC1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
EFHC1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Gene Symbol : EFHC1
Gene Name : EF-hand domain containing 1
Chromosome : CHR 6: 524,201,95-524,957,84
Locus : 6p12.2
Alt. Genes : ENAM
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