The Major facilitator superfamily consists of presumed carbohydrate transporters with 10-12 membrane-spanning domains. Belonging to the facilitator superfamily, HIAT1 is a 490 amino acid multi-pass membrane protein that may function as a sugar transporter and is expressed in adult and embryonic brain. The HIAT1 gene was first observed while analyzing for active genes in neonatal mouse hippocampus. The gene encoding HIAT1 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. Stickler syndrome, Parkinsons, schizophrenia, familial adenomatous polyposis, Gaucher disease and Usher syndrome are also associated with chromosome 1.
