C16orf57 antibody (Internal Region)

Catalog No. ABIN950776

Product Details anti-C16orf57 Antibody

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

Binding Specificity: AA 154-167, Internal Region

Reactivity: Human, Pig

Host: Goat

Clonality: Polyclonal

Conjugate: This C16orf57 antibody is un-conjugated

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

Sequence: C-TANQVKIYTN QEKT

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

Cross-Reactivity (Details): Species reactivity (expected):Pig.
Species reactivity (tested):Human, Mouse, Rat.

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

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

Application Details

Application Notes: Optimal working dilution should be determined by the investigator.

Restrictions: For Research Use only

Handling

Concentration: 0.5 mg/mL

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

Preservative: Sodium azide

Precaution of Use: This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Handling Advice: Avoid repeated freezing and thawing.

Storage: 4 °C/-20 °C

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

Target Details for C16orf57

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

Alternative Name: C16orf57 (USB1 Products)

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

Background: 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

Gene ID: 79650

NCBI Accession: NP_078874