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

鸯铗痂蝈 蜞赕:

  • 离赅矧铐箴: 沐礤蜩赅
  • HGD 缅 (沐 泐祛沐眚桤桧噻)