Family with sequence similarity 222 member B (FAM222B)

Family with sequence similarity 222 member B (FAM222B) is a protein-coding gene located on human chromosome 17 (previously annotated as C17orf63). The protein is expressed in the brain and is regarded as important for neurodevelopmental processes, with rare mutations linked to disorders including autism spectrum disorder, intellectual disability, epilepsy, microcephaly, and other developmental delays. It appears to be widely expressed in the developing brain and interacts with cytoskeletal components, notably the tubulin cytoskeleton and STAMBP, which may relate to subcellular organization and cell signaling. However, its specific molecular function remains unknown. There is no evidence that FAM222B serves as a receptor, enzyme, transporter, or transcription factor, nor is it targeted by any approved therapeutics. Based on current data, FAM222B is best categorized as a protein of unknown function that may play a general role in neurodevelopmental biology. If more precise molecular or disease role data become available in the future, including possible clinical targeting, classification may change; as of now, its function remains incompletely characterized.

Other names

C17orf63F222BFamily with sequence similarity 222, member B