NP_055440.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
42,201 Da
NCBI Official Full Name
podocin
NCBI Official Synonym Full Names
nephrosis 2, idiopathic, steroid-resistant (podocin)
NCBI Official Synonym Symbols
NCBI Protein Information
podocin
UniProt Protein Name
Podocin
UniProt Entry Name
PODO_HUMAN
NCBI Summary for PDCN
This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
UniProt Comments for PDCN
NPHS2: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton. Defects in NPHS2 are the cause of nephrotic syndrome type 2 (NPHS2). It is a renal disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. Belongs to the band 7/mec-2 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 1q25.2
Cellular Component: protein complex; integral to plasma membrane; endoplasmic reticulum; plasma membrane; intercellular junction; lipid raft
Molecular Function: protein binding
Biological Process: actin cytoskeleton reorganization; excretion
Disease: Nephrotic Syndrome, Type 2
Research Articles on PDCN
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Products associated with PDCN elisa kit
Pathways associated with PDCN elisa kit
Diseases associated with PDCN elisa kit
Organs/Tissues associated with PDCN elisa kit
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