C16orf57 anticorps (Internal Region)

N° du produit ABIN950776

Détail du produit anti-C16orf57 anticorps

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

Épitope: AA 154-167, Internal Region

Reactivité: Humain, Porc

Hôte: Chèvre

Clonalité: Polyclonal

Conjugué: Cet anticorp C16orf57 est non-conjugé

Application: Western Blotting (WB), Enzyme Immunoassay (EIA)

Séquence: C-TANQVKIYTN QEKT

Specificité: This antibody is expected to recognize both reported isoforms (NP_078874.2, NP_001182231.1).

Réactivité croisée (Details): Species reactivity (expected):Pig.
Species reactivity (tested):Human, Mouse, Rat.

Purification: Ammonium Sulphate Precipitation followed by Antigen Affinity Chromatography using the immunizing peptide

Immunogène: Peptide with sequence from the internal region of the protein sequence according to NP_078874.2, NP_001182231.1.

Information d'application

Indications d'application: Optimal working dilution should be determined by the investigator.

Restrictions: For Research Use only

Stockage

Concentration: 0.5 mg/mL

Buffer: Tris saline, pH ~7.3 containing 0.02 % Sodium Azide as preservative and 0.5 % BSA as stabilizer

Agent conservateur: Sodium azide

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

Conseil sur la manipulation: Avoid repeated freezing and thawing.

Stock: 4 °C/-20 °C

Stockage commentaire: Store the antibody undiluted at 2-8 °C for one month or (in aliquots) at -20 °C for longer.

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: Defects in C16orf57 are the cause of poikiloderma with neutropenia (PN) [MIM:604173]. 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.Synonyms: FLJ13154, UPF0406 protein C16orf57

ID gène: 79650

NCBI Accession: NP_078874