Recombinant Human Nephrin (NPHS1) , partial | CSB-EP015988HU

Recombinant Human Nephrin (NPHS1) , partial | CSB-EP015988HU | Cusabio

Alternative Name(s): Renal glomerulus-specific cell adhesion receptor

Gene Names: NPHS1

Research Areas: Cell Adhesion

Organism: Homo sapiens (Human)

AA Sequence: QLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRA

Source: E.coli

Tag Info: N-terminal 6xHis-tagged

Expression Region: 23-257aa

Sequence Info: Partial

MW: 29.1 kDa

Purity: Greater than 90% as determined by SDS-PAGE.

Relevance: Ses to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion .

Reference: A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.Abid A., Khaliq S., Shahid S., Lanewala A., Mubarak M., Hashmi S., Kazi J., Masood T., Hafeez F., Naqvi S.A., Rizvi S.A., Mehdi S.Q.Gene 502:133-137(2012)

Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.

Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.

Function: Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).

Involvement in disease: Nephrotic syndrome 1 (NPHS1)

Subcellular Location: Cell membrane, Single-pass type I membrane protein

Protein Families: Immunoglobulin superfamily

Tissue Specificity: Specifically expressed in podocytes of kidney glomeruli.

Paythway:

Form: Liquid or Lyophilized powder

Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Uniprot ID: O60500

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM