VSIG8 (V-set and immunoglobulin domain-containing protein 8), also known as C1orf204, is a 414 amino acid singlepass type I membrane protein that contains two Ig-like V-type (immunoglobulin-like) domains. VSIG8 exists as two
alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 1q23.2. Chromosome 1 is the
largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. The rare
aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective,
the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The MUTYH gene is
located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome,
Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been
identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia.