This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| USB1-20-RE | 20 (40 μL) | 200 μL |  |
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| USB1-20-OR | 20 (40 μL) | 200 μL |  |
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| USB1-20-GO | 20 (40 μL) | 200 μL |  |
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| USB1-20-GR | 20 (40 μL) | 200 μL |  |
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| USB1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Gene Symbol : USB1
Gene Name : U6 snRNA biogenesis phosphodiesterase 1
Chromosome : CHR 16: 579,995,99-580,216,22
Locus : 16q21
Alt. Genes : FEM1B
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