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HRPT1 gene
Xq26.1
Pathology:
- defects in HRPT1 gene associated with:
a) Lesch-Nyhan syndrome
b) gout
Related
hypoxanthine-guanine phosphoribosyltransferase (HGPRT, HPRT, HPRT1)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: hypoxanthine guanine phosphoribosyl transferase
LOCUS: human X-chromosome Q26-27.2
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM correlations
Entrez Gene 3251
References
- OMIM :accession 300322
- OMIM :accession 300323
- OMIM :accession 308000