ELISA/assay

Goat Ankyrin B ELISA Kit

MBS006983

96 Strip Wells

600 USD

ELISA Kit

Goat Ankyrin B ELISA Kit

Ankyrin B

Ankyrin-2; Ankyrin-2; ankyrin-2; ankyrin B; ankyrin, brain; non-erythroid ankyrin; ankyrin-2, nonerythrocytic; ankyrin 2, neuronal; Ankyrin-B; Brain ankyrin; Non-erythroid ankyrin

ANK-B

ANK2; ANK2; LQT4; ANK-2; brank-2; ANK-2

ANK2_HUMAN

Goat

3957

Store all reagents at 2-8 degree C

ELISA Type: Sandwich

387912917

Q01484.4

Q01484

433,715 Da

Axon Guidance Pathway 105688!!Developmental Biology Pathway 477129!!Interaction Between L1 And Ankyrins Pathway 161005!!L1CAM Interactions Pathway 161003!!Proteoglycans In Cancer Pathway 782000!!Proteoglycans In Cancer Pathway 782054

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]

Function: In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions . By similarity. Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate. Ref.8. Subunit structure: Directly interacts with DMD; this interaction is necessary for DMD localization at the sarcolemma. Interacts with DCTN4; this interaction is required for DCTN4 retention at costameres . By similarity. Interacts with RHBG and SPTBN1. Ref.9 Ref.10 Ref.11. Subcellular location: Cytoplasm cytoskeleton. Membrane. Cytoplasm myofibril sarcomere M line . By similarity. Apical cell membrane . By similarity. Cell membrane. Cell junction synapse postsynaptic cell membrane . By similarity. Note: Expressed at the apical membrane of airway lung epithelial cells . By similarity. Localized to the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellular compartment of neonatal cardiomyocytes . By similarity. In skeletal muscle, localizes to neuromuscular junctions . By similarity. Ref.11. Tissue specificity: Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina. Ref.1 Ref.7 Ref.11. Domain: The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin. Ref.14. Post-translational modification: Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein's structure and function . Potential. Involvement in disease: Long QT syndrome 4 (LQT4) [MIM:600919]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.15. Sequence similarities: Contains 24 ANK repeats.Contains 2 death domains.Contains 2 ZU5 domains. Sequence caution: The sequence AAI25237.1 differs from that shown. Reason: Frameshift at position 1405. The sequence CAB42644.1 differs from that shown. Reason: CDS lacks C-terminal region which is nevertheless present in the underlying cDNA.

96 Strip Wells

600 USD