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IGSF1
Immunoglobulin superfamily, member 1〔(【引用サイトリンク】 url = http://omim.org/entry/300137 )〕 is a plasma membrane glycoprotein encoded by the ''IGSF1'' gene,〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3547 )〕 which maps to the X chromosome in humans and other mammalian species. == Function ==
IGSF1’s function in normal cells is unresolved. The protein is a member of the immunoglobulin (Ig) superfamily. It was predicted to contain 12 Ig loops, a transmembrane domain, and a short cytoplasmic tail. However, during translation of the protein, it is cleaved into amino- and carboxy-terminal domains (NTD and CTD, respectively). Only the CTD is trafficked to the plasma membrane. The NTD is trapped within the endoplasmic reticulum (ER). Pathogenic mutations in the ''IGSF1'' gene block the transport of the CTD to the plasma membrane.
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「IGSF1」の詳細全文を読む
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