MFSD1 is a 465 amino acid multi-pass membrane protein that exists as two isoforms as a result of alternative splicing events. A related protein, MFSD2, may play a role in placenta morphogenesis and may also be involved in adaptive thermogenesis. The gene encoding MFSD1 maps to human chromosome 3, which is made up of about 214 million bases encoding over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.