Family with sequence similarity 222 member A (FAM222A)

Family with sequence similarity 222 member A (FAM222A), also known as aggregatin, is a nuclear protein highly expressed in the central nervous system, particularly the brain and spinal cord. The protein is 452 amino acids long and contains a domain of unknown function (PFAM15258)[2][3]. FAM222A has been identified as a susceptibility gene for brain atrophy and plaques in Alzheimer’s disease, where it localizes to amyloid plaques and physically interacts with amyloid-β via its N-terminal domain, directly promoting amyloid-β aggregation[1][3]. This activity links FAM222A to Alzheimer’s disease pathogenesis and suggests a role in neurodegeneration, although it is not a traditional receptor, enzyme, or transporter. Expression is increased in Alzheimer’s disease brains but not in other neurodegenerative conditions such as Parkinson's disease[2]. The protein may act as a novel biomarker and potential therapeutic target for amyloid-β-driven neurodegeneration, but no drugs currently target FAM222A directly, and its role outside of amyloid plaque formation is still under investigation[1][2][3].

Other names

C12orf34FLJ14721AggregatinProtein FAM222A

FAM222A is implicated as a facilitator of amyloid-β aggregation, not as a direct pharmacological target for drugs at this time[1][3].