背景资料：MFSD2 (major facilitator superfamily domain containing 2), also known as MFSD2A, is a 543 amino acid multi-pass membrane protein of the endoplasmic reticulum that is involved in beta-adrenergic signaling during thermogenesis. Existing as three alternatively spliced isoforms, MFSD2 plays a role in G1 regulation and is encoded by a gene that maps to human chromosome 1p34.2. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.