|
TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene. 〔 (【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/gene/57465 )〕 ==Function== This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. (by RefSeq, Feb 2011 ). Mutations in TBC1D24 cause . 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「TBC1D24」の詳細全文を読む スポンサード リンク
|