EC Number   |
General Information |
Reference |
|---|
    2.4.2.8 | evolution |
adenylate kinase (EC 2.7.4.3, AMPK) belongs to nucleoside-5'-monophosphate kinase (NMPK) family. ZgHGPRT/AMPK belongs to class I PRTs, which display a conserved 13-residue fingerprint region (PRPP binding-motif) in their amino acid sequence |
-, 759221 |
| 2.4.2.8 | evolution |
four substitutions are identified in the region of the active site between SmHGPRT and human HGPRT: Ile149Met, Pro176Arg, Val189Ile, and Arg192Lys |
759750 |
| 2.4.2.8 | malfunction |
a deficiency in HPRT activity leads to overproduction of uric acid, hyperuricemia, with gouty arthritis, nephrolithiasis, and mild neurologic symptoms. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease |
701979 |
| 2.4.2.8 | malfunction |
complete deficiency of hypoxanthine-guanine phosphoribosyltransferase causes the Lesch-Nyhan disease, a genetic disorder associated with motor and psychiatric disturbance and self-injurious behaviour, the role of serotonin receptor 2C, HTR2C, might be involved, overview |
704828 |
| 2.4.2.8 | malfunction |
deletion of the HGPRT gene (DELTAhgprt) in the model organism Mycobacterium smegmatis confirms that this enzyme is not essential for Mycobacterium smegmatis' growth |
-, 759433 |
| 2.4.2.8 | malfunction |
enzyme knockdown causes a marked switch from neuronal to glial gene expression and dysregulates expression of Sox2 and its regulator, genes vital for stem cell pluripotency and for the neuronal/glial cell fate decision. In addition, enzyme deficiency dysregulates many cellular functions controlling cell cycle and proliferation mechanisms, RNA metabolism, DNA replication and repair, replication stress, lysosome function, membrane trafficking, signaling pathway for platelet activation multiple neurotransmission systems and sphingolipid, sulfur and glycan metabolism |
737120 |
| 2.4.2.8 | malfunction |
HPRT deficiency influences early developmental processes controlling the dopaminergic phenotype, and is involved in Lesch-Nyhan disease pathogenesis |
703955 |
| 2.4.2.8 | malfunction |
mutations in the gene encoding the purine biosynthetic enzyme HPRT cause the resulting intractable and largely untreatable neurological impairment of Lesch-Nyhan disease. The disorder is associated with a defect in basal ganglia DA pathways, phenotype mechanisms analysis in human embryonic carcinoma neurogenesis model, overview |
705826 |
| 2.4.2.8 | malfunction |
the Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The role of the amyloid precursor protein (APP) gene in neuropathology is associated with HGprt-deficiency in LND. Classical features of LND include hyperuricemia and its sequelae (gout, nephrolithiasis, and tophi), motor disability (dystonia, chorea, and spasticity), intellectual impairment, and self-injurious behaviors such as self-biting, self-hitting, eye poking, and others. Self-injurious behavior is universal in LND. It usually emerges before 4 years of age, but may be delayed until the second decade of life. Etiology involves a mutation of the housekeeping hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene that is located on the long arm of the X chromosome (Xq26.1) |
759871 |
| 2.4.2.8 | metabolism |
analysis of the molecular basis to understand the 6-oxopurine salvage in Trypansoma brucei |
760143 |
