a1-antitrypsin deficiency chromosome is located on chromosome.. ?
Correct Answer: 14
Description: a1-antitrypsin (a1AT) deficiency: a1-Antitrypsin is a small 394-amino acid plasma glycoprotein synthesized predominantly by hepatocytes. It is a member of the serine protease inhibitor (serpin) family. The gene is located on chromosome 14, and is very polymorphic. Autosomal recessive disorder of protein folding Marked by very low levels of circulating a1-Antitrypsin (a1AT). The major function of this protein is the inhibition of proteases. a1AT deficiency leads to the development of pulmonary emphysema, because the activity of destructive proteases is not inhibited. Periodic acid-Schiff (PAS) stain after diastase digestion of the liver, highlights the characteristic magenta cytoplasmic granules
Category:
Pathology
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