The molecular genetics of alpha 1 antitrypsin deficiency.
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Wu Y, Foreman RC
The molecular genetics of alpha 1 antitrypsin deficiency.
Bioessays. 1991 Apr;13(4):163-9.
- PubMed ID
- 1859394 [ View in PubMed]
- Abstract
The human serum protein alpha 1-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 alpha 1-antitrypsin variants some of which are clinically important. These abnormal variants may be poorly synthesised, rapidly degraded or inefficiently secreted; studies on the molecular mechanisms which underly these events are providing interesting insights into the general processes of protein transport and intracellular protein degradation.