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TSC2 : ウィキペディア英語版
TSC2

Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the ''TSC2'' gene.
== Function ==

Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms of the protein.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7249 )〕 Together with tuberous sclerosis, mutations in TSC2 can cause Lymphangioleiomyomatosis, a disease caused by the enlargement of tissue in the lungs, creating cysts and tumours and causing difficulty breathing. Because Tuberin regulates cell size, along with the protein Hamartin coded by the gene TSC1, mutations to these genes may prevent the control of cell growth in the lungs of individuals.〔(【引用サイトリンク】url=http://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis )

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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