| Modification Notes |
SLC10A5 (solute carrier family 10 (sodium/bile acid cotransporter family, member 5), also known as P5, is a 438 amino acid multi-pass membrane protein that belongs to the sodium/bile acid symporter family of cotransporters. Localized to the membrane, SLC10A5 may play a role in the sodium/bile acid uptake system, which functions as a substrate-specific, sodium-dependent transporter of both bile and non-bile organic compounds. The gene that encodes SLC10A5 maps to human chromosome 8, which is made up of nearly 146 million bases, encoding about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. |
