The molecular genetics of alpha 1 antitrypsin deficiency.
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.
Wu
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School of Biochemical and Physiological Sciences, University of Southhampton, UK.
Foreman
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RC
D005786:Gene Expression Regulation; D005809:Genes, Regulator; D006801:Humans; D008099:Liver / Q000502:physiology; D011110:Polymorphism, Genetic; D014158:Transcription, Genetic; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin