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CERKL was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. Additionally we are shipping Ceramide Kinase-Like Antibodies (25) and and many more products for this protein.
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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.
pVHL (show VHL Proteins) interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation.
CERKL interacts with TRX2 (show TXN2 Proteins) and plays a novel key role in the regulation of the TRX2 (show TXN2 Proteins) antioxidant pathway.
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.
Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa
Data suggest a functional link between CERKL, a new ceramide kinase (show CERK Proteins) homolog, and its nucleolar localization.
Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL.
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.
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.
Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis.
In conclusion, the retina had the highest level of Cerkl mRNA and protein expression, which reached its maximum in the adult retina; and its expression decreased in NeuroD1 knock-out retina.
Cerkl-/- knockdown shows a mild retinal phenotype, with increased levels of cellular stress and apoptosis indicators, and clear signs of functional alteration at the ganglion cell layer, but no detectable morphological changes.
The purpose of this work was to investigate alternative splicing, and the temporal and spatial expression pattern of CERKL in the mouse retina.
This work shows that CerkL does not contribute to phosphorylation of Cer and has no impact on Cer and C16-C1P levels in the retina.
This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.
, ceramide kinase-like protein-like
, ceramide kinase-like protein
, retinitis pigmentosa 26 (autosomal recessive)