MTCL1 Antibody / Microtubule cross-linking factor 1 / KIAA0802

MTCL1 (microtubule cross-linking factor 1), also known as CCDC165 (Coiledcoil domain-containing protein 165), SOGA2 or MTCL1, is a 1,905 amino acid protein that localizes to the cell membrane, cytoplasm and cytoskeleton. MTCL1 is a microtubule-associated factor that plays a role in regulating polarization and microtubule dynamics as well as the development and maintenance of non-centrosomal microtubule bundles. MTCL1 is encoded by a gene that maps to chromosome 18 and is expressed as four isoforms due to alternative splicing events. Chromosome 18 encodes over 300 genes and 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.