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NPHP4 Rabbit pAb (APR28465N)

CAT: 0882-APR28465N-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0882-APR28465N-01Size:50 µL
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Background
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants.
Overview
We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality NPHP4 Rabbit pAb (APR28465N) .
Synonyms
NPHP4; POC10; SLSN4
Gene ID
261734
UniProt
O75161
Cellular Locus
Cell junction, Cytoplasm, centrosome, cilium basal body, cytoskeleton, microtubule organizing center, tight junction
Dilution
WB 1:500 - 1:2000
Form
Liquid
Buffer
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Molecular Weight
Calculated MW: 99kDa/157kDa Observed MW: 157kDa
Storage Conditions
Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.
Gene ID URL
https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=261734
Uniprot URL
https://www.uniprot.org/uniprot/O75161
AA Sequence
RLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ

UniProtKB · O75161

Nephrocystin-4

NPHP4_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
O75161
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
NPHP4
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
Q8IWC0
Protein keywords

Coding sequence diversity

Alternative splicing

Cellular component

Cell junctionCell projectionCiliumCytoplasmCytoskeletonNucleusTight junction

Disease

CiliopathyDisease variantLeber congenital amaurosisNephronophthisisSenior-Loken syndrome

PTM

Phosphoprotein

Technical term

Proteomics identificationReference proteome