Gene: [03q2/HGD] homogentisate 1,2-dioxygenase (homogentisate oxidase); alkaptonuria;
PAT | Fernandez-Canon-1996 found 2 mutations of the homogentisate 1,2-dioxygenase gene in 2 unrelated Spanish alkaptonuria pedigrees." |
REF | CLO,SEQ,STR,LOC,MOL,MUT "Fernandez-Canon JM &: Nature Genet,
14, 19-24, 1996 LIN,LOC "Janocha S &: Genomics, 19, 5-8, 1994 LIN,LOC "Pollak MR &: Nature Genet, 5, 201-204, 1993 |
SWI | SWISSPROT: Q93099 |
CLA | coding, basic |
LOC | 03 q21-23 |
MIM | MIM: 203500 |
EZN | ENZYME: 1.13.11.5 |
