FXYD3

Description

The FXYD3 (FXYD domain containing ion transport regulator 3) is a protein-coding gene located on chromosome 19.

FXYD3 is a protein encoded by the FXYD3 gene in humans. It belongs to a family of small membrane proteins that share a 35-amino acid signature sequence domain, starting with PFXYD and containing 7 invariant and 6 highly conserved amino acids. FXYD3 may function as a chloride channel or as a chloride channel regulator. There are two transcript variants encoding two different isoforms of the protein. Alternative polyA signals have been described in the literature.

FXYD3 interacts with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) by transporting sodium ions (Na+) out of the cell and potassium ions (K+) into the cell. FXYD3 reduces glutathionylation of the NKA beta-1 subunit ATP1B1, reversing glutathionylation-mediated inhibition of ATP1B1. When expressed in Xenopus oocytes, FXYD3 induces a hyperpolarization-activated chloride current.

FXYD3 is also known as MAT8, PLML.

Associated Diseases

WES Whole Exome Sequencing