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

International Tables for Crystallography (2012). Vol. F, ch. 1.3, p. 14

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 structureDiseaseReference
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]).