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    發布時間:2022-07-13 15:24 原文鏈接: 免疫相關信號通路LMO1基因的臨床解釋

    這個位點編碼一個轉錄調節因子,它包含兩個富含半胱氨酸的lim結構域,但缺少一個dna結合結構域。lim結構域可能在蛋白質相互作用中發揮作用,因此編碼的蛋白質可能通過競爭性結合到特定的dna結合轉錄因子來調節轉錄。該位點的改變與急性淋巴細胞性t細胞白血病有關。在這個位點和至少兩個位點(t細胞抗原受體基因的delta亞基和lim結構域結合1基因)之間觀察到了染色體重排。另外,已經描述了剪接轉錄變體。[由RefSeq提供,2012年7月]
    This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]

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