Albright syndrome
Oxford Dictionary of Biochemistry:
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Albright syndrome
or hereditary osteoarthropathy
an uncommon autosomal dominant disorder. Type 1a is characterized by short stature, obesity, skeletal defects, and rounded facies. There is resistance to parathyroid hormone, thyrotropin, and gonadotropins, the activity of which is coupled to stimulation of adenylate cyclase in target cells. The alpha subunit of G-protein S (GSα) in affected persons is present at half the normal levels in tissues. This is due to any of some 30 mutations in a locus at 20q13.11, which encodes for the GSα subunit (comprising 394 residues). In type 1b, the physical appearance is normal and hormone resistance is limited to the effect on kidneys of parathyroid hormone. See G-protein. [After Fuller Albright (1900 — 1969), US physician.]
an uncommon autosomal dominant disorder. Type 1a is characterized by short stature, obesity, skeletal defects, and rounded facies. There is resistance to parathyroid hormone, thyrotropin, and gonadotropins, the activity of which is coupled to stimulation of adenylate cyclase in target cells. The alpha subunit of G-protein S (GSα) in affected persons is present at half the normal levels in tissues. This is due to any of some 30 mutations in a locus at 20q13.11, which encodes for the GSα subunit (comprising 394 residues). In type 1b, the physical appearance is normal and hormone resistance is limited to the effect on kidneys of parathyroid hormone. See G-protein. [After Fuller Albright (1900 — 1969), US physician.]
| Alagille syndrome, Ala AT, Ala | |
| Alcalase, Alexander disease, All |
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