STRA6 功能缺陷导致的视觉光转导障碍
中文名称
通路描述
STRA6 缺陷导致微phthalmia 综合征型 9（MCOPS9，Matthew-Wood 综合征或 Spear 综合征；MIM:601186）（Chassaing 等，2009）。该致命综合征影响多个系统，包括眼部和心脏异常。微phthalmia（也称为微phthalmos、nanophthalmia 或 nanophthalmos）是一种眼部发育障碍，字面意思是“小眼”，在大多数情况下导致失明。
英文描述
Abasic sugar-phosphate removal via the single-nucleotide replacement pathway Abasic sugar phosphate removal via the single nucleotide replacement pathway requires displacement of DNA glycosylase by APEX1, APEX1-mediated endonucleolytic cleavage at the 5' side of the base free deoxyribose residue, recruitment of POLB to the AP site and excision of the abasic sugar phosphate (5'dRP) residue at the strand break (Lindahl and Wood, 1999).
所含基因
2 个基因