XPA
پروتئین ترمیمکنندهٔ دیانای مکمل سلولهای ایکسپی-اِی (انگلیسی: DNA repair protein complementing XP-A cells) یک پروتئین است که در انسان توسط ژن «XPA» کُدگذاری میشود.[۴]
این پروتئین نقش مهمی در فرایند ترمیم گسیختگی نوکلئوتید و آسیبهای وارده به دیانای در اثر اشعهٔ فرابنفش خورشید دارد.[۵]
اهمیت بالینی
جهش در ژن «XPA» سبب بروز بیماری نادر گزرودرما پیگمنتوزوم میشود که طی آن فرد در صورت مواجهه با اشعهٔ فرابنفش نور خورشید (حتی در سایه یا درون اتاق) دچار سرطان پوست میشود.
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000028329 – 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.
- ↑ "Entrez Gene: XPA xeroderma pigmentosum, complementation group A".
- ↑ Sugitani N, Sivley RM, Perry KE, Capra JA, Chazin WJ (2016). "XPA: A key scaffold for human nucleotide excision repair". DNA Repair (Amst.). 44: 123–35. doi:10.1016/j.dnarep.2016.05.018. PMC 4958585. PMID 27247238.
برای مطالعهٔ بیشتر
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