菜单 基因医生

这个位点编码一个转录调节因子，它包含两个富含半胱氨酸的lim结构域，但缺少一个dna结合结构域。lim结构域可能在蛋白质相互作用中发挥作用，因此编码的蛋白质可能通过竞争性结合到特定的dna结合转录因子来调节转录。该位点的改变与急性淋巴细胞性t细胞白血病有关。在这个位点和至少两个位点（t细胞抗原受体基因的delta亚基和lim结构域结合1基因）之间观察到了染色体重排。另外，已经描述了剪接转录变体。[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]