COPA and Associated Diseases
Creative Biolabs is committed to accelerating the development of gene therapy. Based on our understanding of gene therapy and potential target genes, we now describe the COPA gene and associated diseases for our clients all over the world.
Overview of COPA
Non-clathrin-coated vesicular coat proteins (COPs) mediate protein transport between the endoplasmic reticulum and Golgi compartments in eukaryotic cells. Seven coat proteins, including alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP have been identified. Among them, alpha-COP encoded by the COPA gene presents high sequence similarity with RET1. The COPA gene is 54,978 bp in size and contains 33 exons with ranges in size from 67 to 611 bp. The WD 40 repeats are highly conserved and involved in multiple cell functions, including cell division, cell fate determination, and vesicular trafficking.
Functions of COPA
The N-terminal 25 amino acids of alpha-COP encode the bioactive peptide xenin, which stimulates pancreatic exocrine secretion and may act as a gastrointestinal hormone. In fact, COPA is widely expressed in different cell types and tissues, but the clinical phenotype is common in the lung, joint, and kidney tissues, suggesting that these tissues are more susceptible to COPA mutations.
COPA Syndrome
Studies have shown that the COPA gene is highly constrained, the loss-of-function mutations and missense mutations in the COPA gene would result in deleterious effects. For example, there are four different heterozygous missense mutations, Arg233His, Asp243Gly, Glu241Lys, and Lys230Asn, have been observed in patients with autoimmune interstitial lung, joint, and kidney disease.
COPA syndrome refers to a monogenic autoimmune disease that affects the lungs and joints. It is usually caused by missense mutations in the COPA gene located on chromosome 1 (1q23.2). The most common symptoms include cough and shortness of breath. COPA syndrome is characterized by immune dysregulation and is both autoimmune and autoinflammatory. Defective cellular mechanisms exist in COPA syndrome that promotes the inappropriate development of autoinflammation and autoreactivity. Till now, little is known about the pathogenesis of COPA syndrome. However, the COPA gene mutations identified so far that cause Copa syndrome were mainly located in exons 8 and 9, and these mutations resulted in the expression of functionally defective mutant COPA protein but do not alter the total cellular level of COPA protein. In addition, COPA gene mutations are associated with interstitial lung disease (ILD) and arthritis.
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