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  • 發布時間:2022-08-03 17:57 原文鏈接: RUNX2基因突變因子與藥物介紹

    這個基因是轉錄因子runx家族的一員,編碼一個具有runt-dna結合域的核蛋白。該蛋白對成骨細胞分化和骨骼形態發生至關重要,并作為核酸和參與骨骼基因表達的調控因子的支架。這種蛋白質既可以作為單體結合DNA,也可以作為異二聚體復合物的亞單位結合DNA編碼蛋白的n末端存在兩個潛在的三核苷酸重復擴增區域,該基因中的這些和其他突變與骨發育障礙性鎖骨顱發育不良(ccd)有關。編碼不同蛋白質亞型的轉錄變體是由于使用交替啟動子和交替剪接而產生的[由RefSeq提供,2016年7月]
    This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]

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