Transmembranprotein 127
das TMEM127-Gen kodiert ein Transmembranprotein mit der Nummerierung 127, welches an der Funktion vakuolisierter Zellorganellen beteiligt ist. Mutationen können die Entwicklung von Phäochromozytomen begünstigen. Die Vererbung is autosomal dominant allerdings mit variabler Penetranz und Expressivität.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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35. |
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36. |
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38. |
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39. |
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40. |
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41. |
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42. |
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43. |
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44. |
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45. |
Vigouroux C et al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.
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46. |
Caux F et al. (2003) A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
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47. |
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48. |
Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
Velho G et al. (1992) Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young.
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55. |
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56. |
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57. |
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58. |
Froguel P et al. (1992) Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.
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59. |
Vionnet N et al. (1992) Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
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60. |
Matsutani A et al. (1992) A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p.
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61. |
Mishra SK et al. (1992) A 2-cM genetic linkage map of human chromosome 7p that includes 47 loci.
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62. |
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63. |
None (1990) Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes.
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64. |
Reardon W et al. (1990) Partial lipodystrophy syndromes--a further male case.
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65. |
None (1988) Banting lecture 1988. Role of insulin resistance in human disease.
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66. |
Burn J et al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).
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67. |
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68. |
Dunnigan MG et al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome.
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69. |
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70. |
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71. |
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72. |
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|
73. |
Rowe RE et al. (1995) Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7.
|
74. |
Bali D et al. (1995) Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.
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75. |
Froguel P et al. (1993) Non-sense mutation of glucokinase gene.
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76. |
Chiu KC et al. (1993) Non-sense mutation of glucokinase gene.
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77. |
Byrne MM et al. (1994) Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
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78. |
Matschinsky F et al. (1993) Glucokinase as pancreatic beta cell glucose sensor and diabetes gene.
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79. |
Sun F et al. (1993) Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
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80. |
None (1993) Glucokinase and candidate genes for type 2 (non-insulin-dependent) diabetes mellitus.
|
81. |
Froguel P et al. (1993) Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
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82. |
Stoffel M et al. (1993) Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
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83. |
Stone LM et al. (1996) A variation at position -30 of the beta-cell glucokinase gene promoter is associated with reduced beta-cell function in middle-aged Japanese-American men.
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84. |
Heimberg H et al. (1996) The glucose sensor protein glucokinase is expressed in glucagon-producing alpha-cells.
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85. |
Velho G et al. (1996) Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
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86. |
Aizawa T et al. (1996) Analysis of the pancreatic beta cell in the mouse with targeted disruption of the pancreatic beta cell-specific glucokinase gene.
|
87. |
Velho G et al. (1997) Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
|
88. |
Jackson SN et al. (1997) Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.
|
89. |
Glaser B et al. (1998) Familial hyperinsulinism caused by an activating glucokinase mutation.
|
90. |
Peters JM et al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.
|
91. |
Dunger DB et al. (1998) Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.
|
92. |
None (1998) Weighing in on diabetes risk.
|
93. |
Hattersley AT et al. (1998) Mutations in the glucokinase gene of the fetus result in reduced birth weight.
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94. |
Jackson SN et al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.
|
95. |
Garg A et al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).
|
96. |
Anderson JL et al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.
|
97. |
None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).
|
98. |
None (2001) Premature atherosclerosis associated with monogenic insulin resistance.
|
99. |
Christesen HB et al. (2002) The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.
|
100. |
Datta SR et al. (2002) Survival factor-mediated BAD phosphorylation raises the mitochondrial threshold for apoptosis.
|
101. |
Grimsby J et al. (2003) Allosteric activators of glucokinase: potential role in diabetes therapy.
|
102. |
Danial NN et al. (2003) BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis.
|
103. |
Gloyn AL et al. (2003) Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
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104. |
None (2004) Acquired and inherited lipodystrophies.
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105. |
Inoue M et al. (2004) A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.
|
106. |
März W et al. (2004) G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus.
|
107. |
Cuesta-Muñoz AL et al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
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108. |
Johansen A et al. (2005) Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
|
109. |
Vits L et al. (2006) Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
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110. |
Terauchi Y et al. (2007) Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance.
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111. |
Pinterova D et al. (2007) Six novel mutations in the GCK gene in MODY patients.
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112. |
Spuler S et al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.
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113. |
Vantyghem MC et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.
|
114. |
Araújo-Vilar D et al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.
|
115. |
Kassem S et al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation.
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116. |
None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.
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117. |
Shen Y et al. (2011) Insight into the biochemical characteristics of a novel glucokinase gene mutation.
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118. |
Hofmeister-Brix A et al. (2013) Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.
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119. |
Dahia PL et al. (2005) Novel pheochromocytoma susceptibility loci identified by integrative genomics.
|
120. |
Qin Y et al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
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121. |
NCBI article
NCBI 55654
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122. |
OMIM.ORG article
Omim 613403
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123. |
Orphanet article
Orphanet ID 227079
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Update: 14. August 2020