| Modification Notes |
TSCOT (Thymic stromal cotransporter homolog) is a 475 amino acid multi-pass membrane protein that belongs to the SLC46A family. TSCOT is believed to act as a cell membrane transporter and is likely to be found glycosylated. TSCOT is encoded by a gene that maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. |