该基因位于11p13染色体,有14个外显子,编码区从4号外显子至13号外显子。 图1. Pax6的基因相关信息 来源:RDDC罕见病数据中心(https://rddc.tsinghua-gd.org/details/gene?gene=maVY72) 该蛋白包含422个氨基酸,有配对结构域、同源结构域和富含脯氨酸-丝氨酸-苏氨酸的结构域三个结构域。配对结构域、同源结构域...
【7】 Carbe C, Garg A, Cai Z, Li H, Powers A, Zhang X. An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes. J Biol Chem. 2013;288(17):12130-12141. doi:10.1074/jbc.M112.436865 【8】 崔娟莲. 应用测序联合MLPA技术对一个先天性...
【7】 Carbe C, Garg A, Cai Z, Li H, Powers A, Zhang X. An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes. J Biol Chem. 2013;288(17):12130-12141. doi:10.1074/jbc.M112.436865 【8】 崔娟莲. 应用测序联合MLPA技术对一个先天性...
Avariation in the sequence of PAX6 gene may alter the function and structure of the protein. Such changes can produce adverse effects on functioning of the PAX6 protein which were clinically observed to occur in a broad range of ocular defects such as aniridia in humans.We employed in silico...
Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript ...
PAX6 activated the transcription of the reporter gene approximately 10-fold over the basal activity with either of the HD binding sites (Fig. 3 A). Interestingly, R26G showed higher transcriptional activity than did wild-type PAX6, whereas I87R did not produce any significant transcriptional ...
PAX6-GFP报告基因是翌圣生物自主研发的用于检测PAX6转录活性水平为目的的报告基因。Pax6(Paired box gene 6)基因主要对眼部发育、嗅觉、中央神经发育和胰腺发育具有调节作用。Pax6的突变会导致眼部虹膜组织发育异常,产生罕见的家族性先天性无虹膜疾病。 PAX6-GFP报告基因主
Pax6-Luc萤光素酶报告基因(报告基因质粒)(Pax6 luciferase reporter plasmid)是翌圣生物自主研发的用于检测Pax6转录活性水平为目的的报告基因。Pax6(Paired box gene 6)基因主要对眼部发育、嗅觉、中央神经发育和胰腺发育具有调节作用。Pax6的突变会导致眼部虹膜组织发育异常,产生罕见的家族性先天性无虹膜疾病。
PAGE 2 - Pax6基因研究进展本课题得到 本课题得到国家自然科学基金委员会(No、甘肃省自然科学基金(No:3ZS061-A25-060)资助。 朱利瑞,贾彦娟,高岚* 兰州大学生命科学学院,兰州(730000) Email: gaolan@ 摘要:Pax6基因对脊椎动物及无脊椎动物眼、鼻、中枢神经系统以及内分泌腺等器官的发育起到重要作用。它能调节多...
In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in ...