ENaC beta(Phospho Thr615) Polyclonal Antibody, 100ul Peripheral Blood Separation Tube Mutations in this gene are

Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2)

SFRP2 encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins

GRM5 encodes a member of the G-protein coupled receptor 3 protein family

This heavy chain subunit is a slow-twitch myosin

an intermediate molecule of the citric acid cycle

ENaC beta(Phospho Thr615) Polyclonal Antibody, 100ul Peripheral Blood Separation Tube Mutations in this gene areNonvoltage 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.