VSX1 Polyclonal Antibody, 20ul Plasma Three alternatively spliced transcript variants

Three alternatively spliced transcript variants for this gene have been described

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

The specific function of this protein has not been determined

subfamily SIX

LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells

VSX1 Polyclonal Antibody, 20ul Plasma Three alternatively spliced transcript variantsThe 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.