A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin
EM Schurek, LA Völker, J Tax, T Lamkemeyer… - Journal of Biological …, 2014 - ASBMB
Mutations in the NPHS2 gene are a major cause of steroid-resistant nephrotic syndrome, a
severe human kidney disorder. The NPHS2 gene product podocin is a key component of the
slit diaphragm cell junction at the kidney filtration barrier and part of a multiprotein-lipid
supercomplex. A similar complex with the podocin ortholog MEC-2 is required for touch
sensation in Caenorhabditis elegans. Although podocin and MEC-2 are membrane-
associated proteins with a predicted hairpin-like structure and amino and carboxyl termini …
severe human kidney disorder. The NPHS2 gene product podocin is a key component of the
slit diaphragm cell junction at the kidney filtration barrier and part of a multiprotein-lipid
supercomplex. A similar complex with the podocin ortholog MEC-2 is required for touch
sensation in Caenorhabditis elegans. Although podocin and MEC-2 are membrane-
associated proteins with a predicted hairpin-like structure and amino and carboxyl termini …
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