Gene: [02p2/XDH] xanthine dehydrogenase (EC:1.1.1.204); xanthine oxidase (EC:1.1.3.22); xanthinuria, type 1 (due to xanthine dehydrogenase deficiency);
COM | Minoshima-1995 assigned the XDH gene to Chr 2p23, Rytkonen-1995 mapped this gene to Chr 2p22.3-.2, and REF Xu-1994b placed this gene in Chr 2p22." |
FUN | Xanthine dehydrogenase (EC:1.1.1.204) can be converted to xanthine oxidase (EC:1.1.3.22) by reversible sulfhydryl oxidation or by irreversible proteolytic modification." |
REF | MUT "Ichida K &: J Clin Invest, 99, N10,
2391-2397, 1997 CLO,SEQ,EXP,STR,LOC "Ichida K &: Gene, 133, 279-284, 1993 CLO,SEQ,EXP,STR,LOC "Minoshima S &: CCG, 68, N1-2, 52-53, 1995 CLO,SEQ,EXP,STR,LOC "Nicklin MJ &: Genomics, 19, 382-384, 1994 CLO,SEQ,EXP,STR,LOC "Rytkonen EM &: CCG, 68, 61-63, 1995 CLO,SEQ,GEN "Xu P &: Genomics, 34, N2, 173-180, 1996 CLO,SEQ,EXP,STR,LOC "Xu P &: BBRC, 199, 998-1004, 1994a CLO,SEQ,EXP,STR,LOC "Xu P &: Genomics, 23, 289-291, 1994b |
SWI | SWISSPROT: P47989 |
CLA | coding, basic |
LOC | 02 p23-22 |
MIM | MIM: 278300 |
EZN | ENZYME: 1.1.1.204 |
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