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Ribosome maturation protein SBDS is a protein that in humans is encoded by the ''SBDS'' gene. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51119 )〕 This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. == Function == The encoded protein may function in RNA metabolism.〔 The precise function of the SBDS protein is not known but it appears to play an important role in ribosome function or assembly. Knockdown of SBDS expression results in increased apoptosis in erythroid cells undergoing differentiation due to elevated ROS levels. Hence SBDS is critical for normal erythropoiesis. This family is highly conserved in species ranging from archaea to vertebrates and plants. The family contains several Shwachman-Bodian-Diamond syndrome (SBDS) proteins from both mouse and humans. Shwachman-Diamond syndrome is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. Members of this family play a role in RNA metabolism.〔 A number of uncharacterised hydrophilic proteins of about 30 kDa share regions of similarity. These include, * Mouse protein 22A3. * ''Saccharomyces cerevisiae'' chromosome XII hypothetical protein YLR022c. * ''Caenorhabditis elegans'' hypothetical protein W06E11.4. * ''Methanococcus jannaschii'' hypothetical protein MJ0592. This particular protein sequence is highly conserved in species ranging from archaea to vertebrates and plants.〔 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「SBDS」の詳細全文を読む スポンサード リンク
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