CD41 Monoclonal Antibody(Q90), 20ul Shaker&Mixing Alternatively spliced transcript variants encoding

Alternatively spliced transcript variants encoding distinct isoforms have been reported

also known as Patau syndrome

Mutations in this gene are associated with papillary renal cell carcinoma

Mutations in this gene are also associated with complete androgen insensitivity (CAIS)

endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane

CD41 Monoclonal Antibody(Q90), 20ul Shaker&Mixing Alternatively spliced transcript variants encodingThis gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha IIb beta 3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet type bleeding