Recombinant Human NPHP1 cell lysate

• Cat.No.: NPHP1-1210HCL

Specification

• Description: 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.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: NPHP1 nephronophthisis 1 (juvenile) [ Homo sapiens ]
• Official Symbol: NPHP1
• Synonyms: NPHP1; nephronophthisis 1 (juvenile); NPH1; nephrocystin-1; JBTS4; nephrocystin 1; juvenile nephronophthisis 1 protein; SLSN1; FLJ97602
• Gene ID: 4867
• mRNA Refseq: NM_000272
• Protein Refseq: NP_000263
• MIM: 607100
• UniProt ID: O15259
• Chromosome Location: 2q13
• Function: protein binding; structural molecule activity