This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CASK-20-RE | 20 (40 μL) | 200 μL |  |
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| CASK-20-OR | 20 (40 μL) | 200 μL |  |
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| CASK-20-GO | 20 (40 μL) | 200 μL |  |
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| CASK-20-GR | 20 (40 μL) | 200 μL |  |
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| CASK-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Symbol : CASK
Gene Name : Calcium/calmodulin dependent serine protein kinase
Chromosome : CHR X: 419,235,24-415,149,33
Locus : Xp11.4
Alt. Genes : PREB
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