catalog number :
MBS422138
products full name :
Goat anti-DYNC1H1 Antibody
products short name :
DYNC1H1
products name syn :
DYNC1H1; dynein, cytoplasmic 1, heavy chain 1; DHC1; DHC1a; DKFZp686P2245; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; KIAA0325; p22; DYNC1H1 variant protein; cytoplasmic dynein heavy chain; dynein heavy chain, cytosolic; dynein, cytoplasmic, heavy polypeptid; DYNC1H1 antibody; dynein; cytoplasmic 1; heavy chain 1 antibody; DHC1 antibody; DHC1a antibody; DKFZp686P2245 antibody; DNCH1 antibody; DNCL antibody; DNECL antibody; DYHC antibody; Dnchc1 antibody; HL-3 antibody; KIAA0325 antibody; p22 antibody; DYNC1H1 variant protein antibody; cytoplasmic dynein heavy chain antibody; dynein heavy chain; cytosolic antibody; dynein; cytoplasmic; heavy polypeptide 1 antibody; dynein; cytoplasmic-like antibody
other names :
cytoplasmic dynein 1 heavy chain 1; Cytoplasmic dynein 1 heavy chain 1; cytoplasmic dynein 1 heavy chain 1; dynein cytoplasmic 1 heavy chain 1; Cytoplasmic dynein heavy chain 1; Dynein heavy chain, cytosolic
products gene name :
DYNC1H1
other gene names :
DYNC1H1; DYNC1H1; p22; DHC1; DNCL; DYHC; HL-3; CMT2O; DHC1a; DNCH1; DNECL; Dnchc1; SMALED1; DHC1; DNCH1; DNCL; DNECL; DYHC; KIAA0325
uniprot entry name :
DYHC1_HUMAN
reactivity :
Expected from sequence similarity: Human, Rat
sequence :
EKKTRTDSTSDGRP
purity :
Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide
form :
Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
concentration :
100ug specific antibody in 200ul
storage stability :
Aliquot and store at -20 degree C. Minimize freezing and thawing.
tested application :
Peptide ELISA (EIA)
app notes :
Peptide ELISA: Antibody detection limit dilution 1: 4000. Western Blot: Not yet tested - our routinely used western blotting protocol does not allow detection of proteins as large as the calculated size of 532kDa according to NP_001367.2. Therefore we cannot recommend an optimal concentration and the antibody is an aspiring product.
other info1 :
Immunogen: Peptide with sequence C-EKKTRTDSTSDGRP, from the internal region of the protein sequence according to NP_001367.2. Epitope: Internal region
ncbi acc num :
NP_001367.2
ncbi gb acc num :
NM_001376.4
ncbi mol weight :
532,408 Da
ncbi pathways :
AURKA Activation By TPX2 Pathway (1383018); Adaptive Immune System Pathway (1269171); Anchoring Of The Basal Body To The Plasma Membrane Pathway (1268847); Asparagine N-linked Glycosylation Pathway (1268714); Assembly Of The Primary Cilium Pathway (1268846); COPI-independent Golgi-to-ER Retrograde Traffic Pathway (1383043); COPI-mediated Anterograde Transport Pathway (1339109); Cell Cycle Pathway (1269741); Cell Cycle, Mitotic Pathway (1269763); Centrosome Maturation Pathway (1269805)
ncbi summary :
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 summary :
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: Motility/polarity/chemotaxis; Motor; Microtubule-binding. Chromosomal Location of Human Ortholog: 14q32. Cellular Component: centrosome; cytoplasmic dynein complex; cytosol; filopodium; membrane; microtubule. Molecular Function: ATP binding; ATPase activity; dynein light intermediate chain binding; microtubule motor activity; protein binding. Biological Process: antigen processing and presentation of exogenous peptide antigen via MHC class II; cytoplasmic mRNA processing body assembly; ER to Golgi vesicle-mediated transport; establishment of spindle localization; G2/M transition of mitotic cell cycle; metabolic process; microtubule-based movement; mitotic spindle organization and biogenesis; stress granule assembly. Disease: Charcot-marie-tooth Disease, Axonal, Type 2o; Mental Retardation, Autosomal Dominant 13; Spinal Muscular Atrophy, Lower Extremity-predominant, 1, Autosomal Dominant