This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SH3TC2-20-RE | 20 (40 μL) | 200 μL |  |
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| SH3TC2-20-OR | 20 (40 μL) | 200 μL |  |
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| SH3TC2-20-GO | 20 (40 μL) | 200 μL |  |
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| SH3TC2-20-GR | 20 (40 μL) | 200 μL |  |
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| SH3TC2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
Gene Symbol : SH3TC2
Gene Name : SH3 domain and tetratricopeptide repeats 2
Chromosome : CHR 5: 149,063,173-148,982,149
Locus : 5q32
Alt. Genes : HIPK3
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