XPB
گزرودرما پیگمنتوزوم نوع بی با به اختصار XPB یک دیانای هلیکاز وابسته به آدنوزین تریفسفات است که در انسان بخشی از یک مولکول پیچیدهٔ فاکتور رونویسی را تشکیل میدهد و توسط ژن «XPB» کُدگذاری میشود.
شکل فضایی سه بعدی این مولکول با استفاده از روش بلورنگاری با اشعهٔ ایکس در مؤسسه پژوهشی اسکریپس تعیین شدهاست.[۵]
اهمیت بالینی
جهش در ژن «XPB» سبب بروز بیماری نادر گزرودرما پیگمنتوزوم میشود که طی آن فرد در صورت مواجهه با اشعهٔ ماورا بنفش نور خورشید دچار سرطان پوست میشود. جهش در این ژن همچنین میتواند منجر به سندرم کاکین و تریکوتیودیستروفی شود.
جستارهای وابسته
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCh38: Ensembl release 89: ENSG00000163161 – Ensembl, May 2017
- ↑ ۲٫۰ ۲٫۱ ۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000024382 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Fan L, Arvai AS, Cooper PK, Iwai S, Hanaoka F, Tainer JA (April 2006). "Conserved XPB Core Structure and Motifs for DNA Unwinding: Implications for Pathway Selection of Transcription or Excision Repair". Molecular Cell. 22 (1): 27–37. doi:10.1016/j.molcel.2006.02.017. PMID 16600867.
برای مطالعهٔ بیشتر
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پیوند به بیرون
- XPBC-ERCC-3 protein در سرعنوانهای موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا
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