International
Tables for
Crystallography
Volume F
Crystallography of biological macromolecules
Edited by M. G. Rossmann and E. Arnold

© International Union of Crystallography 2006
International Tables for Crystallography (2006). Vol. F. ch. 1.3, p. 11

Table 1.3.3.1 

W. G. J. Hola* and C. L. M. J. Verlindea

aBiomolecular Structure Center, Department of Biological Structure, Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195-7742, USA
Correspondence e-mail:  hol@gouda.bmsc.washington.edu

Table 1.3.3.1 | top | pdf |
Crystal structures and genetic diseases

Crystal structure Disease Reference
Acidic fibroblast growth factor receptor Familial Pfeiffer syndrome [1]
Alpha-1-antitrypsin Alpha-1-antitrypsin deficiency [2]
Antithrombin III Hereditary thrombophilia [3], [4]
Arylsulfatase A Leukodystrophy [5]
Aspartylglucosaminidase Aspartylglusominuria [6]
Beta-glucuronidase Sly syndrome [7]
Branched-chain alpha-keto acid dehydrogenase Maple syrup urine syndrome, type Ia [39]
Carbonic anhydrase II Guibaud–Vainsel syndrome, Marble brain disease [8]
p53 Cancer [9], [10]
Ceruloplasmin Hypoceruloplasminemia [11]
Complement C3 C3 complement component 3 deficiency [12]
Cystatin B Progressive myoclonus epilepsy [13]
Factor VII Factor VII deficiency [14]
Factor VIII Factor VIII deficiency [40]
Factor X Factor X deficiency (Stuart–Prower factor deficiency) [15]
Factor XIII Factor XIII deficiency [16]
Fructose-1,6-bisphosphate aldolase Fructose intolerance (fructosemia) [41]
Gelsolin Amyloidosis V [17]
Growth hormone Growth hormone deficiency [18]
Haemochromatosis protein HFE Hereditary haemochromatosis [19]
Haemoglobin Beta-thalassemia, sickle-cell anaemia [20]
Tyrosine hydroxylase Hereditary Parkinsonism [21]
Hypoxanthine–guanine phosphoribosyltransferase Lesch–Nyhan syndrome [22]
Insulin Hyperproinsulinemia, diabetes [42]
Isovaleryl–coenzyme A dehydrogenase Isovaleric acid CoA dehydrogenase deficiency [23]
Lysosomal protective protein Galactosialidosis [24]
Ornithine aminotransferase Ornithine aminotransferase deficiency [25]
Ornithine transcarbamoylase Ornithine transcarbamoylase deficiency [43]
p16INK4a tumour suppressor Cancer [26]
Phenylalanine hydroxylase Phenylketonuria [27]
Plasminogen Plasminogen deficiency [28], [29], [30]
Protein C Protein C deficiency [31]
Purine nucleotide phosphorylase Purine nucleotide phosphorylase deficiency [32]
Serum albumin Dysalbuminemic hyperthyroxinemia [33]
Superoxide dismutase (Cu, Zn-dependent) Familial amyotrophical lateral sclerosis [34]
Thrombin Hypoprothrombinemia, dysprothrombinemia [35]
Transthyretrin Amyloidosis I [36]
Triosephosphate isomerase Triosephosphate isomerase deficiency [37]
Trypsinogen Hereditary pancreatitis [38]

References: [1] Blaber et al. (1996)[link]; [2] Loebermann et al. (1984)[link]; [3] Carrell et al. (1994)[link]; [4] Schreuder et al. (1994)[link]; [5] Lukatela et al. (1998)[link]; [6] Oinonen et al. (1995)[link]; [7] Jain et al. (1996)[link]; [8] Liljas et al. (1972)[link]; [9] Cho et al. (1994)[link]; [10] Gorina & Pavletich (1996)[link]; [11] Zaitseva et al. (1996)[link]; [12] Nagar et al. (1998)[link]; [13] Stubbs et al. (1990)[link]; [14] Banner et al. (1996)[link]; [15] Padmanabhan et al. (1993)[link]; [16] Yee et al. (1994)[link]; [17] McLaughlin et al. (1993)[link]; [18] DeVos et al. (1992)[link]; [19] Lebron et al. (1998)[link]; [20] Harrington et al. (1997)[link]; [21] Goodwill et al. (1997)[link]; [22] Eads et al. (1994)[link]; [23] Tiffany et al. (1997)[link]; [24] Rudenko et al. (1995)[link]; [25] Shah et al. (1997)[link]; [26] Russo et al. (1998)[link]; [27] Erlandsen et al. (1997)[link]; [28] Mulichak et al. (1991)[link]; [29] Mathews et al. (1996)[link]; [30] Chang, Mochalkin et al. (1998)[link]; [31] Mather et al. (1996)[link]; [32] Ealick et al. (1990)[link]; [33] He & Carter (1992)[link]; [34] Parge et al. (1992)[link]; [35] Bode et al. (1989)[link]; [36] Blake et al. (1978)[link]; [37] Mande et al. (1994)[link]; [38] Gaboriaud et al. (1996)[link]; [39] Ævarsson et al. (2000[link]); [40] Pratt et al. (1999[link]); [41] Gamblin et al. (1990[link]); [42] Bentley et al. (1976[link]); [43] Shi et al. (1998[link]).