C16orf57 anticorps (AbBy Fluor® 647)

N° du produit ABIN1403760

Détail du produit anti-C16orf57 anticorps (AbBy Fluor® 647)

Antigène: C16orf57 (USB1) (U6 SnRNA Biogenesis 1 (USB1))

Reactivité: Humain, Souris, Rat

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp C16orf57 est conjugé à/à la AbBy Fluor® 647

Application: Western Blotting (WB), Immunofluorescence (Paraffin-embedded Sections) (IF (p))

Réactivité croisée: Humain, Souris, Rat

Purification: Purified by Protein A.

Immunogène: KLH conjugated synthetic peptide derived from human C16orf57

Isotype: IgG

Information d'application

Indications d'application: IF(IHC-P) 1:50-200

Restrictions: For Research Use only

Stockage

Format: Liquid

Concentration: 1 μg/μL

Buffer: Aqueous buffered solution containing 0.01M TBS ( pH 7.4) with 1 % BSA, 0.03 % Proclin300 and 50 % Glycerol.

Agent conservateur: ProClin

Précaution d'utilisation: This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.

Stock: -20 °C

Stockage commentaire: Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.

Date de péremption: 12 months

Détails sur C16orf57

Antigène: C16orf57 (USB1) (U6 SnRNA Biogenesis 1 (USB1))

Autre désignation: C16orf57 (USB1 Produits)

Synonymes: anticorps C16orf57, anticorps HVSL1, anticorps Mpn1, anticorps PN, anticorps hUsb1, anticorps C18H16orf57, anticorps AA960436, anticorps RGD1305215, anticorps c16orf57, anticorps C2H16orf57, anticorps zgc:91896, anticorps U6 snRNA biogenesis phosphodiesterase 1, anticorps U6 snRNA biogenesis 1, anticorps U6 snRNA biogenesis phosphodiesterase 1 L homeolog, anticorps USB1, anticorps Usb1, anticorps usb1.L, anticorps usb1

Sujet:

Synonyms: Chromosome 16 open reading frame 57, CP057_HUMAN, FLJ13154, UPF0406 protein C16orf57.

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.

ID gène: 79650