NPHP1 purified MaxPab rabbit polyclonal antibody (D01P)
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Specifications
Product Description
Rabbit polyclonal antibody raised against a full-length human NPHP1 protein.
Immunogen
NPHP1 (NP_997064.1, 1 a.a. ~ 121 a.a) full-length human protein.
Sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF
Host
Rabbit
Reactivity
Human, Mouse
Quality Control Testing
Antibody reactive against mammalian transfected lysate.
Storage Buffer
In 1x PBS, pH 7.4
Storage Instruction
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot (Tissue lysate)
NPHP1 MaxPab rabbit polyclonal antibody. Western Blot analysis of NPHP1 expression in mouse testis.Western Blot (Cell lysate)
NPHP1 MaxPab rabbit polyclonal antibody. Western Blot analysis of NPHP1 expression in A-431.Western Blot (Transfected lysate)
Western Blot analysis of NPHP1 expression in transfected 293T cell line (H00004867-T02) by NPHP1 MaxPab polyclonal antibody.
Lane 1: NPHP1 transfected lysate(14.30 KDa).
Lane 2: Non-transfected lysate.
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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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Interactomes
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Diseases
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