Protein Variants | Comment | Organism |
---|---|---|
additional information | shRNA knockdown of HPRT gene expression leading toloss of 94% activity, HPRT-deficient NT2 cells demonstrate aberrant expression of several transcription factors and dopaminergic markers | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
neuron | dopaminergic | Homo sapiens | - |
NTERA-2 cell | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
HPRT | - |
Homo sapiens |
hypoxanthine-guanine phosphoribosyltransferase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
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 | Homo sapiens |
physiological function | the enzyme is involved in the specification and development of neurons, including dopaminergic neurons, as well as in the regulation of dopaminergic transcription factors, overview | Homo sapiens |