| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06019 Steroid hormone biosynthesis |
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| Disease |
| H01163 | Corticosteroid-binding globulin (CBG) deficiency |
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| Reference |
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| Authors |
Van Baelen H, Power SG, Hammond GL |
|---|
| Title |
Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. |
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| Journal |
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| Reference |
|
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| Authors |
Van Baelen H, Brepoels R, De Moor P |
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| Title |
Transcortin Leuven: a variant of human corticosteroid-binding globulin with decreased cortisol-binding affinity. |
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| Journal |
J Biol Chem 257:3397-400 (1982) |
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| Reference |
|
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| Authors |
Brunner E, Baima J, Vieira TC, Vieira JG, Abucham J |
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| Title |
Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred. |
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| Journal |
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| Reference |
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| Authors |
Buss C, Schuelter U, Hesse J, Moser D, Phillips DI, Hellhammer D, Meyer J |
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| Title |
Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. |
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| Journal |
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| Reference |
|
|---|
| Authors |
Emptoz-Bonneton A, Cousin P, Seguchi K, Avvakumov GV, Bully C, Hammond GL, Pugeat M |
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| Title |
Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. |
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| Journal |
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| LinkDB |
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