five

Trp

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DataCite Commons2021-09-29 更新2024-07-13 收录
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https://www.facebase.org/chaise/record/#1/isa:dataset/RID=3-KFZW
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This unpublished dataset is based on the [Trp63 gene](https://www.alliancegenome.org/gene/MGI:1330810), which: Enables several functions, including DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and identical protein binding activity. Involved in several processes, including establishment of skin barrier; negative regulation of intracellular estrogen receptor signaling pathway; and regulation of epidermal cell division. Acts upstream of or within several processes, including animal organ development; embryonic limb morphogenesis; and morphogenesis of a polarized epithelium. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; sensory organ; and surface ectoderm. Used to study ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; bladder exstrophy; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; and gastroesophageal reflux disease. Human ortholog(s) of this gene implicated in several diseases, including ADULT syndrome; EEC syndrome (multiple); ectodermal dysplasia (multiple); orofacial cleft 8; and split hand-foot malformation 4. Orthologous to human TP63.

本未公开数据集基于Trp63基因(Trp63 gene),该基因具备多项分子功能,包括DNA结合活性、RNA聚合酶II特异性DNA结合转录激活活性以及同源蛋白质结合活性。该基因参与多项生物学过程,涵盖皮肤屏障建立、细胞内雌激素受体信号通路的负调控以及表皮细胞分裂调控。其位于多项生物学过程的上游,或直接参与这些过程,包括动物器官发育、胚胎肢体形态发生以及极化上皮形态发生。该基因编码的蛋白定位于细胞核,在消化系统、泌尿生殖系统、皮肤系统、感觉器官以及表面外胚层等多种组织结构中均有表达。本数据集可用于研究睑缘粘连-外胚层缺陷-唇腭裂综合征、膀胱外翻、肢端发育不全-外胚层发育不良-唇腭裂综合征3型以及胃食管反流病。该基因的人类同源基因与多种疾病相关,包括ADULT综合征、多发性EEC综合征、多发性外胚层发育不良、口面裂8型以及手足裂畸形4型。该基因与人类TP63基因存在直系同源关系。
提供机构:
FaceBase (www.facebase.org)
创建时间:
2021-09-29
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