HUMAN HOMOGENTISATE DIOXYGENASE WITH FE(II)HUMAN HOMOGENTISATE DIOXYGENASE WITH FE(II)
Structural highlights
1ey2 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
HGD_HUMAN Defects in HGD are the cause of alkaptonuria (AKU) [MIM:203500. AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.[1][2][3][4][5][6][7][8]
↑Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S. The molecular basis of alkaptonuria. Nat Genet. 1996 Sep;14(1):19-24. PMID:8782815 doi:10.1038/ng0996-19
↑Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K, Kress W. Molecular defects in alkaptonuria. Cytogenet Cell Genet. 1997;76(1-2):14-6. PMID:9154114
↑Beltran-Valero de Bernabe D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmarti R, Penalva MA, de Cordoba SR. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet. 1998 Apr;62(4):776-84. PMID:9529363
↑Higashino K, Liu W, Ohkawa T, Yamamoto T, Fukui K, Ohno M, Imanishi H, Iwasaki A, Amuro Y, Hada T. A novel point mutation associated with alkaptonuria. Clin Genet. 1998 Mar;53(3):228-9. PMID:9630082
↑Beltran-Valero de Bernabe D, Jimenez FJ, Aquaron R, Rodriguez de Cordoba S. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am J Hum Genet. 1999 May;64(5):1316-22. PMID:10205262 doi:S0002-9297(07)62276-9
↑Felbor U, Mutsch Y, Grehn F, Muller CR, Kress W. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Br J Ophthalmol. 1999 Jun;83(6):680-3. PMID:10340975
↑Muller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W. Allelic heterogeneity of alkaptonuria in Central Europe. Eur J Hum Genet. 1999 Sep;7(6):645-51. PMID:10482952 doi:10.1038/sj.ejhg.5200343
↑Beltran-Valero de Bernabe D, Peterson P, Luopajarvi K, Matintalo P, Alho A, Konttinen Y, Krohn K, Rodriguez de Cordoba S, Ranki A. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. J Med Genet. 1999 Dec;36(12):922-3. PMID:10594001
