Family with sequence similarity 50 member B (FAM50B)

Family with sequence similarity 50 member B (FAM50B) is a protein-coding gene that encodes a protein with unknown precise function in humans. FAM50B is an intronless, imprinted gene (paternally expressed), located adjacent to a differentially methylated region, and is associated with diseases such as Armfield syndrome and Temple syndrome. Although FAM50B lacks well-defined molecular domains beyond an N-terminal coiled-coil, it shows high sequence similarity to FAM50A and has been implicated in cellular processes including maintenance of genome stability and regulation of transcriptional programs. FAM50B is not a classical therapeutic target (such as a receptor, enzyme, or transporter), but recent genetic studies show that FAM50B loss in cancer cells creates a vulnerability that can be exploited by targeting its paralogue FAM50A, fulfilling conditions for a synthetic lethal therapeutic strategy. FAM50B has cytoplasmic and nuclear localization in several tissues and may function as an RNA-binding protein or participate in the spliceosome complex. No direct drugs are known to target FAM50B, and its specific mechanisms of action remain largely undefined as of current data.

Other names

Protein FAM50BX5LD6S2654EProtein XAP-5-likeXAP5-like proteinXAP5 like