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...
PAX6genePAX6proteinPAX6mutationseye morphogenesis master regulatorhaploinsufficiencyeye and central nervous system embryogenesis disorderscongenital aniridiaThe PAX6 gene encodes one of the key embryonic transcription factors and serves as a master regulator of eye and central nervous system morphogenesis in all...
参考文献: 【1】 Thaung C, West K, Clark BJ, McKie L, Morgan JE, Arnold K, Nolan PM, Peters J, Hunter AJ, Brown SD, Jackson IJ, Cross SH. Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67. doi: 10.1093/hmg...
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet. 1999;65(3):656-663.Azuma, N., Yamaguchi, Y., Handa, H., Hayakawa, M., Kanai, A., & Yamada, M. (1999). Missense mutation in the alternative splice region of the PAX6 gene in...
MicroRNA-328 may influence myopia development by mediating the PAX6 gene. Invest Ophthalmol Vis Sci. 53(6):2732-9(2012). [2] Shukla S, Mishra R. Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies. Exp Eye Res. 93(1):40-9(2011)....
【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 ...
PAX6基因是导致先天性无虹膜最主要的基因,约90%的无虹膜病例为PAX6基因的杂合变异所致,其中部分患者与染色体重排所致的功能缺失有关。 02 PAX6基因简介及遗传方式 PAX6基因又叫配对盒基因6(paired box gene 6),定位在染色体11p13位置,包含14个外显子,其中4-13号外显子编码氨基酸。CDS全长1269bp,编码422个氨基酸...
Alvin Zipursky Editor-in-Chief PAX6 and Congenital Eye Malformations ISABEL M. HANSON Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh, EH4 2XU, United Kingdom ABSTRACT The PAX6 gene is a paradigm for our understanding of the molecular...
人类配对盒基因6(pairedboxgene6,Pax6)是控眼(smalleye,Sey)与人类无虹膜症(aniridia,AN)。1-3]。 制大脑发育的关键基因,其突变、表达水平改变或功能小鼠Sey是指小眼基因在杂合子(Se·∥+)的情况下,其 状态变化导致一系列眼部疾病。本文对Pax6的发现、眼球小于野生型小鼠,视杯小缝融合推迟,眼呈匙 ...
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。