| Modification Notes |
SLC35E4 (solute carrier family 35, member E4) is a 350 amino acid multi-pass membrane protein and putative transporter that contains one DUF6 domain. A member of the TPT transporter family and SLC35E subfamily, SLC35E4 is exists as two alternatively spliced isoforms that are encoded by a gene that maps to human chromosome 22q12.2. Chromosome 22 houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukemias. |