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Literature summary for 2.4.2.8 extracted from
- Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis (2010), Mol. Ther., 18, 54-62.
Protein Variants
| 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
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | - |
Homo sapiens | - |
| neuron | dopaminergic | Homo sapiens | - |
| NTERA-2 cell | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| HPRT | - |
Homo sapiens |
| hypoxanthine-guanine phosphoribosyltransferase | - |
Homo sapiens |
General Information
| 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 |
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