CAC1F Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in SLC5A2 are associated
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CAC1F Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in SLC5A2 are associatedThis gene encodes a multipass transmembrane protein that functions as an alpha 1 subunit of the voltage dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha 1, alpha 2 delta, beta, and gamma subunits in a 1: 1: 1: 1 ratio. Mutations in this gene can cause X linked eye disorders, including congenital stationary night blindness type 2A, cone rod dystropy, and Aland Island eye
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