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

The specific function of this protein has not been determined

but required for stable formation of the Cu(B) and magnesium centers of COX

Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects

SLC7A10| in association with 4F2HC (SLC3A2

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.