NPHP1 Antibody

CAT: 0247-OAAN01940-100ULSize: 100 µLDry Ice: NoHazardous: No
CAT#:0247-OAAN01940-100ULSize:100 µL
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CAS Number
9007-83-4
Gene Name
Nephronophthisis 1 (juvenile)
Gene Aliases
NPH1, JBTS4, SLSN1
Gene ID
4867
Swiss Prot
O15259
Accession Number
NP_000263.2
Reactivity
Human, Mouse, Rat
Immunogen
Recombinant protein of human NPHP1
Target
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.
Clonality
Polyclonal
Conjugation
Unconjugated
Type
Polyclonal Antibody
Applications
WB, IHC, IF
Purification
Affinity purified against immunogen
Assay Protocol
Reconstitution & Storage Instructions Western Blotting/Immunoblotting (WB/IB) Protocol Immunohistochemistry (IHC) Protocol Immunocytochemistry (ICC) Protocol Enzyme-Linked ImmunoSorbent Assay (ELISA) Protocol Blocking Peptide Competition Protocol (BPCP) Immunoprecipitation (IP) Protocol Antibody Array (AA) Protocol Reconstitution & Storage Instructions Reconstitution & Storage Instructions Western Blotting/Immunoblotting (WB/IB) Protocol Western Blotting/Immunoblotting (WB/IB) Protocol Immunohistochemistry (IHC) Protocol Immunohistochemistry (IHC) Protocol Immunocytochemistry (ICC) Protocol Immunocytochemistry (ICC) Protocol Enzyme-Linked ImmunoSorbent Assay (ELISA) Protocol Enzyme-Linked ImmunoSorbent Assay (ELISA) Protocol Blocking Peptide Competition Protocol (BPCP) Blocking Peptide Competition Protocol (BPCP) Immunoprecipitation (IP) Protocol Immunoprecipitation (IP) Protocol Antibody Array (AA) Protocol Antibody Array (AA) Protocol
Format
Liquid
Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Reconstitution
Store at -20C. Avoid repeated freeze/thaw cycles.
Molecular Weight
83 kDa
Fragment
IgG
NCBI Gene Symbol
NPHP1
Host or Source
Rabbit
Protein Name
Nephrocystin-1
Gene Name URL
NPHP1
Nucleotide Accession Number
NM_000272.3

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