PNP (Purine Nucleoside Phosphorylase)

GURBANOV R., TUNÇER S.

Atlas of Genetics and Cytogenetics in Oncology and Haematology, cilt.22, sa.11, ss.431-438, 2018 (Scopus) identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 22 Sayı: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4267/2042/68966
  • Dergi Adı: Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.431-438
  • Anahtar Kelimeler: Cancer, Immunodeficiency, PNP deficiency, Purine metabolism, Purine nucleotide phosphorylase (PNP)
  • Bilecik Şeyh Edebali Üniversitesi Adresli: Hayır

Özet

© 2018 Atlas of Genetics and Cytogenetics in Oncology and Haematology.The purine nucleoside phosphorylase gene (PNP) encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. PNP is ubiquitously expressed in mammalian cells and tissues. PNP mutations cause nucleoside phosphorylase deficiency which result in defective T cell mediated immunity but can also affect B cell immunity and antibody responses.