Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P00492 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,385
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have developed a sensitive radioimmunoassay capable of detecting and quantitating 20 ng of
hypoxanthine phosphoribosyltransferase
(EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferase) protein. For this assay,
hypoxanthine phosphoribosyltransferase
from human erythrocytes was iodinated with 125I under mild conditions using hydrogen peroxide and
lactoperoxidase
attached to Sepharose-4B. Antisera prepared against homogeneous human
hypoxanthine phosphoribosyltransferase
precipitates the iodinated enzyme as effectively as the unlabeled enzyme. The radioimmunoassay has been used to look for
hypoxanthine phosphoribosyltransferase
crossreacting material in hemolysates from sixteen different patients with a marked genetic deficiency of this enzyme characteristic of the
Lesch-Nyhan syndrome
. Fifteen hemolysates contained no detectable (less than 1% of normal) crossreacting material. One hemolysate contained a normal amount of crossreacting material.
Hypoxanthine phosphoribosyltransferase
from this patient (E.S.) has been shown to be a Km mutant enzyme.
...
PMID:Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients. 106 95
