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Anti-C16orf57 Antibody

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产品名称: Anti-C16orf57 Antibody
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简单介绍

Anti-C16orf57 Antibody


Anti-C16orf57 Antibody  的详细介绍
Name: Anti-C16orf57 Antibody
See all C16orf57 primary antibodies
Description: Goat polyclonal antibody to C16orf57.
Applications: ELISA, WB
Reactivity: Human, Mouse, Rat
Immunogen: Synthetic peptide corresponding to Human C16orf57 (internal region).
Sequence: C-TANQVKIYTNQEKT
Host: Goat
Clonality: Polyclonal
Isotype: IgG
Conjugate: Unconjugated
Purification: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
Concentration: 100 µg at 0.5 mg/ml.
Product Form: Liquid
Formulation: Supplied in Tris Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 0.5% BSA.
Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Function: Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate.
Involvement in Disease: Poikiloderma with neutropenia: 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. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. 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.
Sequence Similarities: Belongs to the 2H phosphoesterase superfamily. USB1 family.
Cellular Location: Nucleus.
Database Links:
  • Entrez Gene: 79650 Human
  • Omim: 613276 Human
  • SwissProt: Q9BQ65 Human
  • Unigene: 408702 Human
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    Synonyms:
  • C16orf57 Antibody
  • Chromosome 16 open reading frame 57 Antibody
  • CP057_HUMAN Antibody
  • FLJ13154 Antibody
  • UPF0406 protein C16orf57 Antibody
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    Information: Target information shown above is from the UniProt Consortium.
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