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Literature summary for 2.4.2.8 extracted from

  • Ceballos-Picot, I.; Mockel, L.; Potier, M.C.; Dauphinot, L.; Shirley, T.L.; Torero-Ibad, R.; Fuchs, J.; Jinnah, H.A.
    Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis (2009), Hum. Mol. Genet., 18, 2317-2327.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.4.2.8

Cloned(Commentary)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
BE(2)-M17 cell a neuroblastoma cell line Homo sapiens
-
neuron
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

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

Synonyms Comment Organism
HPRT
-
 Homo sapiens
hypoxanthine-guanine phosphoribosyltransferase
-
 Homo sapiens

Expression

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

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