Anti-C16orf57 Rabbit Polyclonal Antibody

Supplier: Bioss

BS-9631R
10493-650EA 796.88 CAD
10493-650
Anti-C16orf57 Rabbit Polyclonal Antibody
Antibodies
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.

Recommended Dilutions: Western Blot: 1:100-1000; IHC-P: 1:100-500; IF(IHC-P): 1:50-200

Type: Primary
Antigen: C16orf57
Clonality: Polyclonal
Clone:
Conjugation: Unconjugated
Epitope:
Host: Rabbit
Isotype: IgG
Reactivity: Human, Mouse, Rat
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