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anti-Human Aspartate beta Hydroxylase Antibodies:
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Higher levels of HAAH/humbug mRNA were found in the hepatocellular carcinoma tissues relative to the adjacent cancerfree tissue.
this study provides evidence that ASPH is mutated in a distinct form of syndromic ectopia lentis.
Data show that junctate (ASPH) is an interacting partner of Orai1 (show ORAI1 Antibodies)-STIM1 (show STIM1 Antibodies) complex.
Ca(2 (show CA2 Antibodies)+) and JNT-dependent disassembly of the CSQ2 polymer
Aspartyl-asparaginyl-beta-hydroxylase is an important, positive regulator of trophoblastic cell motility, and it's inhibition in vivo leads to impaired implantation and fetal growth, and alters Notch (show NOTCH1 Antibodies)-signaling mechanisms.
Low expression of AAH in the endochylema and nucleus of trephocyte may play a role in patients with missed abortion.
role of gene in neuroblastoma (show ARHGEF16 Antibodies) cell motility
AAH over-expression may contribute to the infiltrative growth pattern of cholangiocarcinoma cells by promoting motility.
junctate has a role in calcium homeostasis in eukaryotic cells
This review summarizes recent progress in elucidating the molecular mechanisms of hypoxia-inducible factor (HIF)-1 (show HIF1A Antibodies) activation, focusing on the role of oxygen-dependent prolyl hydroxylase in hypoxia signal transduction.
Results predict that junctin ablation, or mutations that alter its structural attributes, may mimic the etiology of catecholaminergic polymorphic ventricular tachycardia by causing enhanced diastolic Ca2 (show CA2 Antibodies)+ leak in the presence of beta-adrenergic activation.
in skeletal muscle the disruption of Tdn (show TRDN Antibodies)/CASQ (show CASQ1 Antibodies) link has a more profound effect on jSR architecture and myoplasmic Ca(2 (show CA2 Antibodies)+) regulation than Jct/CASQ (show CASQ1 Antibodies) association.
junctate may play an important role in the regulation of sarcoplasmic reticulum Ca(2 (show CA2 Antibodies)+) cycling through the interaction with SERCA2a (show ATP2A2 Antibodies) in the murine heart.
Cardiac remodeling and atrial fibrillation in transgenic mice overexpressing junctin
the N-terminus of junctate interacts with the C-terminus of TRPC2 (show TRPC2 Antibodies)
To gain more insight into the underlying mechanisms of impaired contractile relaxation in transgenic mice with cardiac-specific overexpression of junctin (TG), we studied cellular Ca(2 (show CA2 Antibodies)+) handling in these mice.
Junctin is an essential regulator of sarcoplasmic reticulum Ca release and contractility in normal hearts. Ablation of junctin is associated with aberrant Ca homeostasis, which leads to fatal arrhythmias
Data suggest that junctate over-expression is associated with an increase in the sarcoplasmic reticulum Ca2 (show CA2 Antibodies)+ storage capacity and releasable Ca2 (show CA2 Antibodies)+ content and support a physiological role for junctate in intracellular Ca2 (show CA2 Antibodies)+ homeostasis.
review of recent findings concerning the expressional regulations and the proposed functions of junctin and junctate
This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis.
A beta H-J-J
, ASP beta-hydroxylase
, aspartyl/asparaginyl beta-hydroxylase
, cardiac junctin
, peptide-aspartate beta-dioxygenase
, aspartate beta-hydroxylase
, aspartyl beta-hydroxylase
, calsequestrin-binding protein
, junctional sarcoplasmic reticulum protein