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Human NPHS2 Recombinant Protein (RPPB4118)

SKU:
RPPB4118
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q9NP85
€309
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Description

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Product Name:Human NPHS2 Recombinant Protein
Product Code:RPPB4118
Size:10µg
Species:Human
Target:NPHS2
Synonyms:Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin), PDCN, SRN1, Podocin, NPHS2.
Source:Escherichia Coli
Physical Appearance:Filtered White lyophilized (freeze-dried) powder.
Formulation:NPHS2 was filtered (0.4�m) and lyophilized in 30mM acetate buffer and 1mM dithiothreitol, pH 4.
Solubility:It is recommended to add 0.1M acetate buffer pH 4.0 to prepare a working stock solution of approximately 0.5mg/ml and let the lyophilized pellet dissolve completely. For conversion into higher pH value, we recommend intensive dilution by relevant buffer to a concentration of 10�g/ml. In higher concentrations the solubility of this antigen is limited. NPHS2 is not sterile! Please filter the product by an appropriate sterile filter before using it in the cell culture.
Stability:Store lyophilized protein at -20°C. Aliquot the product after reconstitution to avoid repeated freezing/thawing cycles. Reconstituted protein can be stored at 4°C for a limited period of time; it does not show any change after two weeks at 4°C.
Purity:Greater than 95.0% as determined by SDS-PAGE.
Amino Acid Sequence:MKHHHHHHASVKVVQEYERV IIFRLGHLLP GRAKGPGLFF FLPCLDTYHK VDLRLQTLEI PFHEIVTKDM FIMEIDAICY YRMENASLLL SSLAHVSKAV QFLVQTTMKR LLAHRSLTEI LLERKSIAQD AKVALDSVTC IWGIKVERIE IKDVRLPAGL QHSLAVEAEA QRQAKVRMIA AEAEKAASES LRMAAEILSG TPAAVQLRYL HTLQSLSTEK PSTVVLPLPF DLLNCLSSPS NRTQGSLPFP SPSKPVEPLN PKKKDSPML

Nephrosis 2 Idiopathic Steroid-Resistant (NPHS2) is a protein which has a role in the regulation of glomerular permeability, serving as a linker between the plasma membrane and the cytoskeleton. NPHS2 gene mutations cause steroid-resistant nephrotic syndrome.

NPHS2 Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain (Val125-Leu383) containing 269 amino acids including a 10 aa His tag at N-terminus. The total calculated molecular mass is 30.2kDa.

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

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