Solute carrier family 9 member D1 (SLC9D1)

Solute carrier family 9 member D1 (SLC9D1), also known as TMCO3, is a membrane protein belonging to the monovalent cation:proton antiporter 2 (CPA2) family.[4][7][11] It is predicted to function as a potassium/sodium:proton antiporter, coupling the export of monovalent cations (such as K⁺ or Na⁺) to the import of protons (H⁺) across biological membranes.[1][2][4] SLC9D1 contains a transmembrane domain and a coiled-coil domain, is localized to cellular membranes such as the Golgi apparatus, and is expressed in multiple tissues including embryonic structures.[2][1] Mutations in SLC9D1 are associated with rare inherited vision defects such as cornea guttata with anterior polar cataract, as well as immunodeficiency with basal ganglia calcification.[4] No drugs are currently known to target SLC9D1 nor have safety concerns or clinical biomarkers been established for its modulation.

Other names

TMCO3Transmembrane and coiled-coil domain-containing protein 3C13orf11FLJ20623Chromosome 13 open reading frame 11Putative LAG1-interacting proteinTransmembrane and coiled-coil domains 3