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: EC:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We identified a novel point mutation (I137T) in the
hypoxanthine-guanine phosphoribosyltransferase
(
HPRT
;
EC 2.4.2.8
) encoding gene, in a patient with partial deficiency of the enzyme (variant of Lesch-Nyhan syndrome). The mutation, ATT to
ACT
, resulting in substitution of isoleucine to threonine, occurred at codon 137 (exon 6), which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). We suggest the mechanism by which the mutation-induced structural alteration of
HPRT
reduced the affinity of the enzyme for PRPP.
...
PMID:A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome. 1261 88
A novel point mutation (I137T) was identified in the
hypoxanthine-guanine phosphoribosyltransferase
(
HPRT
) encoding gene, in a patient with partial deficiency of the enzyme. The mutation, ATT to
ACT
(substitution of isoleucine to threonine), occurred at codon 137, which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). The mutation caused decreased affinity for PRPP, manifested clinically as a Lesch-Nyhan variant (excessive purine production and delayed acquisition of language skills). The partial
HPRT
deficiency could be detected only by measuring
HPRT
activity in intact fibroblasts (uptake of hypoxanthine into nucleotides).
...
PMID:Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem. 1557 Dec 22
