Gene: HPRT1

Alternate names for this Gene: HGPRT|HPRT

Gene Summary: The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.

Gene is located in Chromosome: X

Location in Chromosome : Xq26.2-q26.3

Description of this Gene: hypoxanthine phosphoribosyltransferase 1

Type of Gene: protein-coding

rs1556026984 in HPRT1 gene and Dysmorphic features PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

rs1228634091 in HPRT1 gene and Gout, HPRT-Related PMID 24940672 2014 Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

PMID 17027311 2007 Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

PMID 20544509 2010 Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

PMID 15571223 2004 Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

PMID 2896620 1988 Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

PMID 3198771 1988 Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

PMID 2909537 1989 Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

PMID 6853490 1983 Human hypoxanthine-guanine phosphoribosyltransferase.

PMID 6572373 1983 Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

PMID 3358423 1988 Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

PMID 6706936 1984 Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

PMID 7987318 1994 Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.

PMID 9288634 1997 Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.

PMID 1934271 1991 Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.

PMID 2347587 1990 Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

PMID 11018746 2000 The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

PMID 28045594 2017 Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.

PMID 22132984 2011 HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.

rs137852480 in HPRT1 gene and Lesch-Nyhan Syndrome PMID 9452051 1998 The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

PMID 2246854 1990 Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

PMID 3265398 1988 Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

PMID 17027311 2007 Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

PMID 15571223 2004 Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

PMID 2071157 1991 Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

PMID 6853716 1983 Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

PMID 20544509 2010 Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

PMID 2910902 1989 Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

PMID 24940672 2014 Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

PMID 2347587 1990 Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

PMID 2572141 1989 Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.

PMID 3384338 1988 Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

PMID 2358296 1990 Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

PMID 7627191 1995 Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

PMID 3265398 1988 The predicted amino acid (aa) substitution in HPRTMidland is a valine to aspartic acid at aa 130.

PMID 1934271 1991 Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.

PMID 9288634 1997 Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.

PMID 22132984 2011 HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.

PMID 11018746 2000 The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

PMID 28045594 2017 Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.

rs1556026984 in HPRT1 gene and Movement Disorders PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

rs1556026984 in HPRT1 gene and Muscle hypotonia PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.