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Mineralocorticoid receptor structure
P08235
MCR_HUMAN
NR3C2

Mineralocorticoid receptor

Homo sapiensTaxon: 9606

3D-structureAlternative splicingCytoplasmDisease variantDNA-bindingEndoplasmic reticulumLipid-bindingMembraneMetal-bindingNucleusPhosphoproteinProteomics identification+7
序列长度

984

氨基酸

分子量

107.1 kDa

理论值

实验结构

29

PDB 条目

相关疾病

2

已记录

功能描述

Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels

定位与分布

组织特异性

Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes

相关疾病

Pseudohypoaldosteronism 1, autosomal dominant

A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.

Early-onset hypertension with severe exacerbation in pregnancy

Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.

氨基酸序列

METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN

FASTA 格式 · 984 个氨基酸 · 分子量 107.1 kDa