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

Three alternatively spliced transcript variants for this gene have been described

Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G

SLC7A10| in association with 4F2HC (SLC3A2

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

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.