Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.

Human mutation - 1 Jun 2004

Duan Jianxin, Nilsson Lennart, Lambert Bo

Abstract excerpt

Hypoxanthine phosphoribosyl transferase (HPRT, also known as HGPRT) is an often-used genetic marker in eukaryotic cells. The gene is conserved from bacteria to human, with retained catalytic activity, although substrate specificity may have changed, and the enzyme is essential in malaria-causing protozoans. Inherited mutations in the human HPRT1 gene result in three different phenotypes: Lesch-Nyhan syndrome (LNS...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Drug Resistance
Share to Germ-Line Mutation
Share to Hyperuricemia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypoxanthine Phosphoribosyltransferase

Share to Lesch-Nyhan Syndrome

Share to Protein Conformation

Share to Structure-Activity Relationship

Share to Thioguanine

Source

Identifiers

PMID: 15146465
DOI: 10.1002/humu.20047

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.PMID 15146465Read ↗

Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch–Nyhan disease and HPRT1-related gout by in silico mutational analysisSemantic proximity Read ↗

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

The spectrum of mutations causing HPRT deficiency: an update.Semantic proximity Read ↗

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.Semantic proximity Read ↗

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Semantic proximity Read ↗

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.Semantic proximity Read ↗

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.Semantic proximity Read ↗

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.