Description
Product Characteristics:
Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGF modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The FAM59A gene product has been provisionally designated FAM59A pending further characterization.
Subcellular location: Cell membrane
Synonyms: FA59A_HUMAN, fam59a, Family with sequence similarity 59, member A, GAREM, Gm944, Protein FAM59A.
Target Information: This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]