NPHP1 293T Cell Transient Overexpression Lysate(Denatured)
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More Files
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Specification
Transfected Cell Line
293T
Plasmid
pCMV-NPHP1 full-length
Host
Human
Theoretical MW (kDa)
14.3
Quality Control Testing
Transient overexpression cell lysate was tested with Anti-NPHP1 antibody (H00004867-D01) by Western Blots.
SDS-PAGE Gel
NPHP1 transfected lysate.
Western Blot
Lane 1: NPHP1 transfected lysate ( 14.3 KDa)
Lane 2: Non-transfected lysate.Storage Buffer
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot
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Gene Info — NPHP1
Entrez GeneID
4867GeneBank Accession#
NM_207181.1Protein Accession#
NP_997064.1Gene Name
NPHP1
Gene Alias
FLJ97602, JBTS4, NPH1, SLSN1
Gene Description
nephronophthisis 1 (juvenile)
Gene Ontology
HyperlinkGene Summary
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq
Other Designations
nephrocystin-1
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Interactome
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Disease
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