CAC1F Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in SLC5A2 are associated

Mutations in SLC5A2 are associated with renal glucosuria

DRD1 encodes the D1 subtype of the dopamine receptor

Ethanolamine kinase 2 encoded by ETNK2 is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway

Mutations within this gene account for approximately 45% of families with high incidence of breast cancer and at least 80% of families with increased incidence of both early-onset breast cancer and ovarian cancer

a condition characterized by mild mental retardation

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