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PNP deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome (chromosome 14 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Purine nucleoside phosphorylase, PNP, PNPase or inosine phosphorylase (EC 2.4.2.1) is an enzyme that in humans is encoded by the NP gene. It catalyzes the chemical reaction purine nucleoside + phosphate ⇌ {\displaystyle \rightleftharpoons ...
Purine nucleoside phosphorylase deficiency: An autosomal recessive disorder involving mutations of the purine nucleoside phosphorylase (PNP) gene. PNP is a key enzyme in the purine salvage pathway. Impairment of this enzyme causes elevated dGTP levels resulting in T-cell toxicity and deficiency. Reticular dysgenesis
Within several years, ten more cases of immune deficiency linked to PNP mutations were described, leading to the classification of the disorder as purine nucleoside phosphorylase deficiency. [3] Giblett's other notable discoveries include T cell immunodeficiency.
Nezelof syndrome is an autosomal recessive [6] congenital immunodeficiency condition due to underdevelopment of the thymus.The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase.
This is a list of primary immunodeficiencies (PID), which are immune deficiencies that are not secondary to another condition.. The International Union of Immunological Societies recognizes nine classes of primary immunodeficiencies, totaling approximately 430 conditions.
T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity. [1] T cells normal function is to help with the human body's immunity, they are one of the two primary types of lymphocytes (the other being B cells ).
Pyridoxine 5′-phosphate oxidase is an enzyme, encoded by the PNPO gene, [1] [2] [3] that catalyzes several reactions in the vitamin B 6 metabolism pathway. Pyridoxine 5′-phosphate oxidase catalyzes the final, rate-limiting step in vitamin B 6 metabolism, the biosynthesis of pyridoxal 5′-phosphate, the biologically active form of vitamin B 6 which acts as an essential cofactor. [4]