C16orf57 Polyklonale Antilichaam, HRP-vervoeging

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.

Chromosome 16 open reading frame 57; CP057_HUMAN; FLJ13154; UPF0406 protein C16orf57.

79650

Rat

171-265/265

C16orf57

HRP

KLH conjugated synthetic peptide derived from human C16orf57

WB

Purified by Protein A.

1µg/µl

WB (1:300-5000)

Aqueous buffered solution containing 0.01M TBS (pH 7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Unmodified

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

79650

Human, Mouse, Dog, Cow, Sheep, Pig, Horse, Rabbit