| No | Size | Price | Availability | |
| YRP09636-01 | 50ul | 1500.00 | In Stock |  |
| YRP09636-01 | 100ul | 2000.00 | In Stock | |
| Source: | Rabbit | Gene Id: | 79650 |
| Isotype: | IgG | Swiss Prot: | |
| purity: | Purified by Protein A. |
| Background: |
| Involvement in disease;Defects in C16orf57 are the cause of poikiloderma with neutropenia (PN). PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome. |
| Reactivity | Human, Mouse, Rat |
| Tested applications | WB IHC IF |
| Clonality | Polyclonal Antibody |
| Calculated MW | / |
| Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
| Immunogen | KLH conjugated synthetic peptide derived from human C16orf57 |
| Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
| Synonym | Chromosome 16 open reading frame 57, CP057_HUMAN, FLJ13154, UPF0406 protein C16orf57. |
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