ASIC3

Description

The ASIC3 (acid sensing ion channel subunit 3) is a protein-coding gene located on chromosome 7.

ASIC3, also known as ACCN3 or TNaC1, is a protein encoded by the ASIC3 gene in humans. It belongs to the ASIC family, which forms trimeric acid-sensing ion channels. These channels are expressed primarily in the central and peripheral nervous system. ASICs can be composed of three identical subunits (homotrimers) or a mix of different subunits (heterotrimers). ASIC3 is a member of the ASIC/ENaC superfamily, which includes amiloride-sensitive sodium channels. These channels have intracellular N and C termini, two hydrophobic transmembrane regions (TM1 and TM2), and a large extracellular loop containing many cysteine residues with conserved spacing. The pore of the channel, which allows selective ion flow from the extracellular side to the cytoplasm, is formed by the three TM2 regions of the trimer.

ASIC3 is also known as ACCN3, DRASIC, SLNAC1, TNaC1.

Associated Diseases

• nail-patella syndrome
• Joubert syndrome
• congenital dyserythropoietic anemia type 2
• Senior-Boichis syndrome
• progressive familial intrahepatic cholestasis type 3
• cholestasis, progressive familial intrahepatic, 9
• hemolytic anemia due to glucophosphate isomerase deficiency
• non-spherocytic hemolytic anemia due to hexokinase deficiency