- Antibody type:Primary
- Antigen name:U6 SnRNA Biogenesis Phosphodiesterase 1
- Antigen symbol:USB1
- Clonality:Polyclonal
- Conjugation:HRP (Horseradish Peroxidase)
- Host:Rabbit
- ImmunoChemistry:Yes
- Isotype:IgG
- Reactivity:Human,Rat,Mouse
- Western blot:Yes
- Cross adsorption:No
- Form:liquid
- Gene ID:79650
- Antigen synonyms:HVSL1|hypothetical protein LOC79650|Chromosome 16 Open Reading Frame 57|PN|FLJ13154|HVSL motif containing 1
- Storage buffer:Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% Gentamicin. Store at 4°C for 12 months.
- Storage temperature:Store at –20 °C for 12 months
- Concentration:1 μg/μl
- Shipping temperature:4°C
- Purification:Purified by Protein A
- Pk:100 µl
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.
Recommended Dilutions: Western Blot: 1:100-1000; IHC-P: 1:100-500
Type: Primary
Antigen: USB1
Clonality: Polyclonal
Clone:
Conjugation: HRP (Horseradish Peroxidase)
Epitope:
Host: Rabbit
Isotype: IgG
Reactivity: Human, Mouse, Rat