Family with sequence similarity 43 member A (FAM43A)

Family with sequence similarity 43 member A (FAM43A) is a nuclear protein-coding gene encoding a conserved protein of 423 amino acids, with structural homology to low-density lipoprotein receptor adaptor proteins. It is highly expressed in mouth, vascular system, spleen, ear, adipose tissue, umbilical cord, and bone, with particularly high levels during infant development[1]. FAM43A exhibits upregulated expression in tumors such as head and neck carcinomas, bladder carcinoma, and triple-negative breast cancer, and is implicated in T-cell acute lymphoblastic leukemia. It is a candidate gene for autism spectrum disorder and learning difficulties, with polymorphisms in its regulatory region associated with these traits. Functional studies suggest possible roles in tumor suppression and regulation of metabolism and RNA circuitry in disease contexts, but its precise molecular function and mechanism remain to be elucidated. Known interacting proteins include SR protein kinase 2 (SRPK2), protein phosphatase 2A subunits, ABL kinase, and sorting nexin 6 (SNX6), but no direct drug interactions have been described[1][3].\nFAM43A is not a classical drug target; it is best described as a candidate disease gene with potential biomarker value in specific cancer and neurodevelopmental contexts[1][2][3].

Other names

Protein FAM43AFAM43APP7298FLJ90022GCO3P195887GC03P194406GC03P191784NM_153690.3

Not applicable; no known drugs targeting FAM43A