Cloned (Comment) | Organism |
---|---|
expressed in MN-9D cells | Homo sapiens |
functional expression of the HPRT enzyme from a minigene encoding human HPRT driven by the chicken beta-actin promoter in enzyme-deficient MN9D cell lines, which restores HPRT activity and reverses the engrailed transcription factor, En1 and En2, overexpression of the mutant | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
BE(2)-M17 cell | a neuroblastoma cell line | Homo sapiens | - |
neuron | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
HPRT activity in HPRT-deficient MN9D mutant cells, overview | Homo sapiens |
0.0008 | - |
wild-type MN9D cells | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
HPRT | - |
Homo sapiens |
hypoxanthine-guanine phosphoribosyltransferase | - |
Homo sapiens |
Organism | Comment | Expression |
---|---|---|
Homo sapiens | mutational HPRT deficiency influences early developmental processes controlling the dopaminergic phenotype, and causes Lesch-Nyhan disease pathogenesis, microarray analysis of HPRT-deficient MN9D cells, phenotype, e.g. with increases in the mRNAs for engrailed 1 and 2, En1 and En2, transcription factors, overview. Restoration of HPRT reverses engrailed overexpression in MN9D cells | additional information |
General Information | Comment | Organism |
---|---|---|
malfunction | HPRT deficiency influences early developmental processes controlling the dopaminergic phenotype, and is involved in Lesch-Nyhan disease pathogenesis | Homo sapiens |
physiological function | HPRT is a housekeeping enzyme responsible for recycling purines, it regulates early developmental programming of dopamine neurons | Homo sapiens |