| Modification Notes |
SDF-2L1 (stromal cell-derived factor 2-like 1), also known as PWP1-interacting protein 8, is a 221 amino acid protein that localizes to the lumen of the endoplasmic reticulum (ER) and contains three MIR domains. Expressed ubiquitously with highest expression in testis and moderate expression in colon, spleen, pancreas, prostate and small intestine, SDF-2L1 is thought to play a role in the unfolded protein response within the ER and may be involved in the pathogenesis of hepatocellular carcinoma. The gene encoding SDF-2L1 maps to human chromosome 22, which 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. |