Technical Data

C5071-16Q
Clone Type
Polyclonal
Host
Goat
Source
Human
Isotype
IgG
Grade
Affinity Purified
Applications
E WB
Crossreactivity
Hu Mo Po Rt
Accession #
NP_078874.2; NP_001182231.1
Gene ID
79650
Shipping Temp
Blue Ice
Storage Temp
-20°C
Goat Anti-C16orf57 (UPF0406 Protein C16orf57)

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.

Applications
Suitable for use in ELISA and Western Blot. Other applications not tested.
Recommended Dilution
ELISA: 1:16,000 Western Blot: 0.3-1ug/ml, observed in human, mouse and rat skin lysates at ~35+28kD bands Optimal dilutions to be determined by the researcher.
Storage and Stability
May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Immunogen
Synthetic peptide corresponding to RQRSRERAESEAEC, from human C16orf57, at the internal region of the protein (NP_078874.2).
Form
Supplied as a liquid in Tris saline, 0.02% sodium azide, pH 7.3, 0.5% BSA.
Purity
Purified by immunoaffinity chromatography.
Specificity
Recognizes human C16orf57. Species Crossreactivity: mouse and rat. Species sequence homology: porcine.

Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.

References
No references available
USBio References
No references available
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