SFFZ1

SFFZ1 is a gene located on human chromosome 11. Its full name is Small Fragile Filamentous Z protein 1. The gene is believed to play a role in cellular structure and organization, though its precise function is still under investigation. Research suggests it may be involved in the formation of cytoskeletal elements and the transport of molecules within the cell.

Mutations in the SFFZ1 gene have been associated with certain rare genetic disorders. These disorders can manifest with a range of symptoms, including developmental delays and intellectual disabilities. The specific consequences of SFFZ1 mutations depend on the nature and location of the genetic alteration.

Studies have shown that SFFZ1 is expressed in various tissues throughout the body, with higher levels observed in the brain and muscle tissue. This widespread expression pattern further supports its potential role in fundamental cellular processes. Ongoing research aims to elucidate the complete functional spectrum of SFFZ1 and its implications for human health. Understanding the SFFZ1 gene is crucial for developing diagnostic tools and potential therapeutic strategies for related genetic conditions.