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This protein encoded by CANT1 belongs to the apyrase family. Zusätzlich bieten wir Ihnen CANT1 Antikörper (74) und CANT1 Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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The Multiple Epiphyseal Dysplasia (MED)phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED
a novel mutation of CANT1, c.467C>T (p.Ser156Phe) in 3 Indian patients with Desbuquois dysplasia, Kim type from 2 families
Data studied proteoglycan (zeige Vcan Proteine) synthesis in CANT1 mutated patient fibroblasts, and found significant reduced GAG synthesis in presence of beta-D-xyloside, suggesting that CANT1 plays a role in proteoglycan (zeige Vcan Proteine) metabolism.
Novel mutations in the CANT1 gene are reported in three cases of Desbuquois dysplasia type I and fetal hydrops.
CANT1 is commonly overexpressed in the vast majority of primary prostate carcinomas and in the precursor lesion PIN (zeige DYNLL1 Proteine) and may represent a novel prognostic biomarker
The clinical-radiographic spectrum produced by CANT1 mutations must be extended to include Desbuquois dysplasia type 2 and Kim variant.
This soluble apyrase is a calcium-binding protein (zeige CETN1 Proteine), as evident from saturable Ca2 (zeige CA2 Proteine)+-dependent changes in intrinsic tryptophan fluorescence, UV difference absorption spectra, and Ca2 (zeige CA2 Proteine)+-triggered transition from enzymatically inactive form to active enzyme.
The two novel ETV4 fusion partners possess as predominant common characteristics androgen-induction and prostate-specific expression.
Mutations in CANT1 in Desbuquois dysplasia are identified.
Restoring CANT1 levels in neuroblastoma (zeige ARHGEF16 Proteine) clones recovered the phenotype, thus confirming a key role of CANT1, and of the regulation of its gene by DREAM, in the control of protein synthesis and degradation
This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.
, calcium activated nucleotidase 1
, soluble calcium-activated nucleotidase 1
, soluble calcium-activated nucleotidase 1-like
, Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase
, apyrase homolog
, micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
, putative MAPK-activating protein PM09
, putative NF-kappa-B-activating protein 107
, soluble Ca-activated nucleotidase, isozyme 1
, soluble calcium-activated nucleotidase SCAN-1
, apyrase 1, homolog (C. lectularius)
, ectonucleoside triphosphate diphosphohydrolase 8