其他名称： MED13L; KIAA1025; Mediator of RNA polymerase II transcription subunit 13-like; Mediator complex subunit 13-like; Thyroid hormone receptor-associated protein 2; Thyroid hormone receptor-associated protein complex 240 kDa component-like
实测条带： 250kD
功能： disease:A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro-looped and mental retardation. Translocation t(12;17)(q24.1;q21).,disease:Defects in MED13L are a cause of transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]. DTGA consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.,function:Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the Mediator complex subunit 13 family.,subunit:Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP.,tissue specificity:Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.
科研货号： PLA018483
TRAP240 Polyclonal Antibody
Catalog NoPLA018483
Product information
基因名称： MED13L
蛋白名称： Mediator of RNA polymerase II transcription subunit 13-like
其他名称： MED13L; KIAA1025; Mediator of RNA polymerase II transcription subunit 13-like; Mediator complex subunit 13-like; Thyroid hormone receptor-associated protein 2; Thyroid hormone receptor-associated protein complex 240 kDa component-like
实测条带： 250kD
功能： disease:A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro-looped and mental retardation. Translocation t(12;17)(q24.1;q21).,disease:Defects in MED13L are a cause of transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]. DTGA consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.,function:Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the Mediator complex subunit 13 family.,subunit:Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP.,tissue specificity:Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.
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