Substrate In Vitro Evidence:
SLC3A2 (4F2hc) is the "heavy chain" of several heterodimeric amino acid transporters (HATs), which is necessary for proper insertion of the heterodimer partner ("light chain"), considered the catalytic subunit, into the plasma membrane. The heterodimer partners of SLC3A2 are several members of the SLC7 family (see SLC7A6-10). The substrate specificity of these dimers varies with the identity of the SLC7 family subunit.
Substrate In Vivo Evidence:
SLC3A2 has not been directly associated with any human disease; however, several SLC7 family members, which require SLC3A2 for activity, have been associated with diseases of amino acid hyperexcretion (see SLC7A6-10).
Tissue Distribution Evidence:
Northern blot analysis in mice demonstrated that the 4F2hc gene is expressed at relatively high levels in adult testis, lung, brain, kidney, and spleen, and at significantly lower levels in adult liver and cardiac and skeletal muscle (Parmacek MS, Karpinski BA, Gottesdiener KM, Thompson CB, Leiden JM. Structure, expression and regulation of the murine 4F2 heavy chain. Nucleic Acids Res 17(5): 1915-31, 1989).
