Abstract:
:HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular concentration of enzyme protein, a normal subunit molecular weight and an acidic isoelectric point under native isoelectric focusing conditions. We have cloned a full-length cDNA for HPRT Ann Arbor and determined its complete nucleotide sequence. A single nucleotide change (T----G) at nucleotide position 396 has been identified. This transversion predicts an amino acid substitution from isoleucine (ATT) to methionine (ATG) in codon 132, which is located within the putative 5'-phosphoribosyl-1-pyrophosphate (PRPP)-binding site of HPRT.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Fujimori S,Hidaka Y,Davidson BL,Palella TD,Kelley WNdoi
10.1007/BF00291707subject
Has Abstractpub_date
1988-05-01 00:00:00pages
39-43issue
1eissn
0340-6717issn
1432-1203journal_volume
79pub_type
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