C16orf57 antibody (AbBy Fluor® 594)

Catalog No. ABIN2810598

Product Details anti-C16orf57 Antibody (AbBy Fluor® 594)

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

Reactivity: Human, Mouse, Rat

Host: Rabbit

Clonality: Polyclonal

Conjugate: This C16orf57 antibody is conjugated to AbBy Fluor® 594

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

Cross-Reactivity: Human, Mouse, Rat

Purification: Purified by Protein A.

Immunogen: KLH conjugated synthetic peptide derived from human C16orf57

Isotype: IgG

Application Details

Application Notes: IF(IHC-P) 1:50-200

Restrictions: For Research Use only

Handling

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.

Preservative: ProClin

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

Storage: -20 °C

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

Expiry Date: 12 months

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:

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.

Gene ID: 79650