Porcine Cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) ELISA Kit | DYNC1H1 elisa kit
Porcine Cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
Uniprot Description
DNCH1: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Defects in DYNC1H1 are the cause of Charcot-Marie-Tooth disease type 2O (CMT2O). CMT2O is anaxonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Defects in DYNC1H1 are the cause of mental retardation autosomal dominant type 13 (MRD13). A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. Defects in DYNC1H1 are the cause of spinal muscular atrophy, lower extremity, autosomal dominant (SMALED). A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED is characterized by muscle weakness predominantly affecting the proximal lower extremities. Belongs to the dynein heavy chain family.
Protein type: Microtubule-binding; Motor; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 14q32
Cellular Component: microtubule; centrosome; membrane; cytoplasmic dynein complex; cytosol; filopodium
Molecular Function: protein binding; ATPase activity; dynein light intermediate chain binding; microtubule motor activity; ATP binding
Biological Process: stress granule assembly; mitotic spindle organization and biogenesis; transport; metabolic process; organelle organization and biogenesis; antigen processing and presentation of exogenous peptide antigen via MHC class II; cytoplasmic mRNA processing body assembly; mitotic cell cycle; G2/M transition of mitotic cell cycle; microtubule-based movement
Disease: Charcot-marie-tooth Disease, Axonal, Type 2o; Spinal Muscular Atrophy, Lower Extremity-predominant, 1, Autosomal Dominant; Mental Retardation, Autosomal Dominant 13
Research Articles on DYNC1H1
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Product Notes
The Porcine DYNC1H1 dync1h1 (Catalog #AAA7204988) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7204988 ELISA Kit recognizes Porcine DYNC1H1. It is sometimes possible for the material contained within the vial of "Cytoplasmic dynein 1 heavy chain 1 (DYNC1H1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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