CERKL Antibody

Code CSB-PA777407
Size US$297
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  • Western blot analysis of extracts from A549 cells, using CERKL antibody.
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) CERKL Polyclonal antibody
Uniprot No.
Target Names
CERKL
Alternative Names
Ceramide kinase like protein antibody; Ceramide kinase-like protein antibody; CERKL antibody; CERKL_HUMAN antibody; Retinitis pigmentosa 26 (autosomal recessive) antibody; RP26 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Synthesized peptide derived from internal of Human CERKL.
Immunogen Species
Homo sapiens (Human)
Clonality
Polyclonal
Purification Method
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration
It differs from different batches. Please contact us to confirm it.
Form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Tested Applications
ELISA,WB
Recommended Dilution
Application Recommended Dilution
WB 1:500-1:3000
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
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
Gene References into Functions
  1. Our report indicates that the first diagnostic test for Finnish patients with sporadic or autosomal recessive retinal dystrophy should be a targeted test for founder mutations in the CERKL. PMID: 29068140
  2. The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling. PMID: 24547929
  3. pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation. PMID: 26296657
  4. CERKL interacts with TRX2 and plays a novel key role in the regulation of the TRX2 antioxidant pathway. PMID: 24735978
  5. An unexpected multiplicity of CERKL transcriptional start sites (four in each species) plus a high variety of alternative splicing events primarily affecting the 5' half of the gene generate >20 fully validated mRNA isoforms in human and 23 in mouse. PMID: 21508105
  6. Observational study of genetic testing. (HuGE Navigator) PMID: 20801516
  7. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
  8. Observational study of genetic testing. (HuGE Navigator) PMID: 20591486
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
  10. Observational study of gene-disease association. (HuGE Navigator) PMID: 20677014
  11. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
  12. Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa PMID: 14681825
  13. Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization. PMID: 15708351
  14. Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL. PMID: 16581028
  15. c.238+1G>A is the second reported mutation of CERKL and is a prevalent founder mutation that underlies approximately 33% of autosomal recessive retinal degeneration cases in the Yemenite Jewish population. PMID: 18055789
  16. This study presents the first genotype-phenotype correlation for persons carrying p.Arg257ter mutation and provides clues for a characteristic phenotype of these mutations among persons with autosomal recessive cases. PMID: 18515597
  17. This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease. PMID: 18978954
  18. Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis. PMID: 19158957
  19. The Pleckstrin Homology (PH) domain of CERK, which is required for Golgi complex localization, can substitute for the N-terminal region of CERKL and allow for wild-type CERKL localization, which is typified by nucleolar accumulation. PMID: 19501188
  20. CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. PMID: 19578027
  21. Our data indicate that compound heterozygous mutations of CERKL can cause RP. PMID: 19667359
  22. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 18519826
  23. Genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18521091

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Involvement in disease
Retinitis pigmentosa 26 (RP26)
Subcellular Location
Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.
Tissue Specificity
Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as wel
Database Links

HGNC: 21699

OMIM: 608380

KEGG: hsa:375298

STRING: 9606.ENSP00000341159

UniGene: Hs.732358

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