Orphanet: hypoxanthine phosphoribosyltransferase 1

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HPRT1 - hypoxanthine phosphoribosyltransferase 1

Synonym(s) : HGPRT, Lesch-Nyhan syndrome
Previous symbols and names : HPRT
Type : gene with protein product
Chromosomal location : Xq26.2-q26.3
OMIM: 308000
HGNC: 5157
UniProtKB: P00492
Genatlas: HPRT1
GenCC: HPRT1
Ensembl: ENSG00000165704
IUPHAR-DB: -
Reactome: P00492
LOVD: HPRT1

Diseases list

Disease-causing germline mutation(s) (loss of function) in Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
Disease-causing germline mutation(s) (loss of function) in Lesch-Nyhan syndrome ORPHA:510

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (112)

Research activities on this gene

Specialised Social Services

Eurordis directory

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