HEAVY CHAIN DISEASE
\hˈɛvi t͡ʃˈe͡ɪn dɪzˈiːz], \hˈɛvi tʃˈeɪn dɪzˈiːz], \h_ˈɛ_v_i tʃ_ˈeɪ_n d_ɪ_z_ˈiː_z]\
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A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N- (amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.