基因名:
FGGY
产品别名:
FGGY; FGGY carbohydrate kinase domain containing; FGGY carbohydrate kinase domain containing; FGGY carbohydrate kinase domain-containing protein; D-ribulokinase; D-ribulokinase FGGY; 肌萎缩侧索硬化症相关蛋白FGGY;
背景信息:
FGGY is a 551 amino acid member of the FGGY kinase family that exists as four isoforms which are produced by alternative splicing events. Expressed in lung, kidney, small intestine, liver and fetal brain, FGGY is encoded by a gene that maps to chromosome 1 and, when mutated, is associated with sporadic amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative disorder that affects motor neurons and results in fatal paralysis, usually within 2 to 5 years after initial diagnosis. Chromosome 1, on which the gene encoding FGGY is located, is 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, many of which are associated with genetic diseases, including Hutchinson-Gilford progeria, familial adenomatous polyposis, Stickler syndrome, Gaucher disease and Usher syndrome.