Macroglobulin complement-related (Mcr) encodes a transmembrane protein of the conserved thioester-containing protein (TEP) superfamily including macroglobulins and complement proteins. It is a core component of septate junctions, which provide an essential paracellular barrier to epithelia.
This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Predicted to enable G-quadruplex RNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be part of NSL complex. Is an ortholog of human MCRS1 (microspherule protein 1).