KLHL7 Antibody

Code CSB-PA812891ESR1HU
Size US$166
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  • Immunohistochemistry of paraffin-embedded human colon cancer using CSB-PA812891ESR1HU at dilution of 1:100

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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) KLHL7 Polyclonal antibody
Uniprot No.
Target Names
KLHL7
Alternative Names
KLHL7Kelch-like protein 7 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Kelch-like protein 7 protein (427-586AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Clonality
Polyclonal
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Form
Liquid
Tested Applications
ELISA, IHC
Recommended Dilution
Application Recommended Dilution
IHC 1:20-1:200
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.
Gene References into Functions
  1. We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS. PMID: 29074562
  2. KLHL7 is a novel regulator of the nucleolus associated with TUT1 ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology. PMID: 29032201
  3. data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype--but they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7 PMID: 27392078
  4. The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A). PMID: 22084217
  5. KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity. PMID: 21828050
  6. Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. PMID: 20547956
  7. The present results indicate that KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease. Whether KLHL7 antibodies can be used as paraneoplastic markers for PNS remains to be determined. PMID: 16918702
  8. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. PMID: 19520207

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Involvement in disease
Cold-induced sweating syndrome 3 (CISS3); Retinitis pigmentosa 42 (RP42)
Subcellular Location
Nucleus. Cytoplasm.
Tissue Specificity
Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.
Database Links

HGNC: 15646

OMIM: 611119

KEGG: hsa:55975

STRING: 9606.ENSP00000343273

UniGene: Hs.654817

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