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The molecular genetics of α1 antitrypsin deficiency

✍ Scribed by Ying Wu; Richard C. Foreman

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
882 KB
Volume
13
Category
Article
ISSN
0265-9247

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✦ Synopsis

The human serum protein u,-antitrypsin is the major source of antiprotease activity found in the blood. The protein is synthesised primarily by liver cells but, to a lesser extent, by at least one other cell type. Expression of the gene has provided a paradigm for studies on transcriptional regulation in liver and of tissue-specific promoter activity. The pleiomorphic nature of the gene has given rise to a variety of al-antitrypsin variants some of which are clinically important. These abnormal variants may be poorly synthesised, rapidly degraded or inefficiently secreted; studies un the malecular mechanisms which underly these events are providing interesting insights into the general processes of protein transport and intracellular protein degradation.

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