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Human Genome Project Using PCR - Dissertation Example

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Annexin A5 (ANXA5) is a protein encoding gene which belongs to the annexin family of calcium-dependent phospholipid binding proteins. These proteins take part in endocytotic and exocytotic pathways as well as membrane-related events…
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Download file to see previous pages Annexin A5 is a classical member of the chordate annexin family. It displays essential tetra structure and calcium-dependent phospholipid binding. It is one of the few annexins that can be found within the extracellular matrix. Annexin A5 has been postulated to be an inhibitor of coagulation due to its ability to attach to anionic phospholipids exposed of surfaces of platelets (Gerke & Moss, 2010). Consequently, this important gene inhibits platelet aggregation and down regulates surface presentation of tissue factor. The annexin A5 gene covers approximately 9 kb of the human chromosome 4q27. It comprises of one non-translated exon and 12 coding exons. Little is known about the regulation of the annexin A5 gene expression. Annexin A5 is an abundantly and ubiquitously expressed protein with highest concentrations in the liver, placenta and kidney. The human annexin A5 gene produces numerous transcripts and has a complex promoter which is subject to intricate regulation mechanism (Gerke & Moss, 2010).
Annexin A5 has been implicated in a wide range of disease phenotypes and etiology including recurrent pregnancy losses and cancer. It is a calcium and phospholipid protein localized within the surface of the placental syncytiotrophoblast layer. This protein performs vital anticoagulant function within the maternal blood and specifically at the intervillous space. Recently, it has been reported that polymorphisms in the promoter region of the annexin A5 gene can significantly be linked to recurrent pregnancy loss (RPL). Particularly, women who possess the M2 haplotype have more than two-fold higher risk of fetal loss compared to non-carriers (Bogdanova, Horst, Chlystun, Croucher, Nebel, Bohring, et al. 2010).
Additionally, annexin A5 has been reported to be a vascular anticoagulant-?, placental anticoagulant protein I, liporcotin V, endonexin II, anchorin CII and placental protein 4. The annexin A5 gene spans 29 kilobases and has 13 exons which encode a single transcript of approximately 1.6 kb. The protein product of this gene has a molecular weight of approximately 35 kDa (Carcedo, Iglesias, Bances, Morgan & Fernandez, 2011). Official name of the gene: annexin A5 Official symbol: ANXA5 Gene type: protein coding Other names: PP4, ANX5, ENX2, RPRGL3 Chromosomal location: 4q27 ( Annexin A5 is a classical member of the chordate annexin family. It displays essential tetra structure and calcium-dependent phospholipid binding. It is one of the few annexins that can be found within the extracellular matrix. Annexin A5 has been postulated to be an inhibitor of coagulation due to its ability to attach to anionic phospholipids exposed ...Download file to see next pagesRead More
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