Family with sequence similarity 240 member B (FAM240B)

Family with sequence similarity 240 member B (FAM240B) encodes a protein with a conserved domain of unknown function (DUF4605) and is widely expressed in human and mouse tissues[2]. It has been implicated in lysosomal morphology, as knockout cells displayed enlarged lysosome-derived vacuoles which could be rescued by wildtype FAM240B expression[2]. FAM240B and its paralog FAM240A are evolutionarily conserved across multicellular eukaryotes. While it colocalizes with endoplasmic reticulum proteins and is found in both ER and plasma membrane fractions, mouse knockout studies suggest loss of FAM240B alone or combined with its paralog does not result in overt phenotypic defects, nor does it exacerbate lysosomal disease models[2]. The molecular and physiological function of FAM240B remains unknown, and it does not currently have any known direct involvement in human disease or as a drug target. No therapeutically relevant ligands, biomarkers, or safety concerns have been reported in the available literature[2][7].

Other names

FAM240Bprotein FAM240B