Description
Product Name: | NPHS2 Rabbit mAb |
Product Code: | CAB2302 |
Size: | 20uL, 50uL, 100uL |
Synonyms: | PDCN, SRN1 |
Applications: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | A synthesized peptide derived from human NPHS2 |
Applications: | WB |
Recommended Dilutions: | WB 1:500 - 1:2000 |
Reactivity: | Human |
Positive Samples: | HeLa, HT-29, 293T |
Immunogen: | A synthesized peptide derived from human NPHS2 |
Purification Method: | Affinity purification |
Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | Email for sequence |
Gene ID: | 7827 |
Uniprot: | Q9NP85 |
Calculated MW: | 42kDa |
Observed MW: | 35KDa |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
UniProt Code: | Q9NP85 |
NCBI GenInfo Identifier: | 12230467 |
NCBI Gene ID: | 7827 |
NCBI Accession: | Q9NP85.1 |
UniProt Secondary Accession: | Q9NP85,Q8N6Q5, B1AM32, B1AM33, |
UniProt Related Accession: | Q9NP85 |
Molecular Weight: | 34,421 Da |
NCBI Full Name: | Podocin |
NCBI Synonym Full Names: | nephrosis 2, idiopathic, steroid-resistant (podocin) |
NCBI Official Symbol: | NPHS2 |
NCBI Official Synonym Symbols: | PDCN; SRN1 |
NCBI Protein Information: | podocin |
UniProt Protein Name: | Podocin |
Protein Family: | Podocin |
UniProt Gene Name: | NPHS2 |
UniProt Entry Name: | PODO_HUMAN |