ENaC beta(Phospho Thr615) Polyclonal Antibody, 50ul Organelle Studies Mutations in this gene cause

Mutations in this gene cause congenital heart defects| multiple types| 2 (CHTD2)

The activity of this protein is specific for phosphatidylinositol 4|5-bisphosphate and phosphatidylinositol 3|4|5-trisphosphate

Its proper function is essential for cell viability and normal NPC function

and trapping it in the cytoplasm

Cytochrome c oxidase (COX)| the terminal component of the mitochondrial respiratory chain| catalyzes the electron transfer from reduced cytochrome c to oxygen

ENaC beta(Phospho Thr615) Polyclonal Antibody, 50ul Organelle Studies Mutations in this gene causeNonvoltage gated, amiloride sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome.