VSX1 Polyclonal Antibody, 20ul Plasma Defects in this gene cause

Defects in this gene cause Niemann-Pick type C disease| a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments

Three alternatively spliced transcript variants for this gene have been described

SLC7A10| in association with 4F2HC (SLC3A2

Mutations or deletions in this gene have been shown to result in pancreatic cancer

VSX1 Polyclonal Antibody, 20ul Plasma Defects in this gene causeThe protein encoded by this gene contains a paired like homeodomain and binds to the core of the locus control region of the red green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described.