This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SBF1-20-RE | 20 (40 μL) | 200 μL |  |
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| SBF1-20-OR | 20 (40 μL) | 200 μL |  |
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| SBF1-20-GO | 20 (40 μL) | 200 μL |  |
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| SBF1-20-GR | 20 (40 μL) | 200 μL |  |
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| SBF1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
Gene Symbol : SBF1
Gene Name : SET binding factor 1
Chromosome : CHR 22: 504,750,70-504,449,99
Locus : 22q13.33
Alt. Genes : AKAP9
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