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Data show that cytoplasmic dynein (show DYNC1H1 ELISA Kits) 1b is required for the rapid redistribution of the membrane polypeptide SAG1 (show SAG ELISA Kits)-C65, which is a part of membrane protein SAG1 (show SAG ELISA Kits).
next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively
exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome
Compound heterozygous mutation in DYNC2H1 gene is associated with severe short-rib polydactyly syndrome type III.
a DYNC2H1 mutations causing SRPS III
Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
This study confirms that NEK1 (show NEK1 ELISA Kits) is one gene causing SRP (show UCN2 ELISA Kits) type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations.
In an in vitro MT gliding assay, both dynein-1 and dynein-2 showed minus-end-directed motor activities.
Semi-quantitative RT-PCR experiments with 6 of those genes confirmed higher expression of DNCH2, ARHGEF6 (show ARHGEF6 ELISA Kits), NPM1 (show NPM1 ELISA Kits) and SRI (show SRI ELISA Kits) and lower expression of NRGN (show NRGN ELISA Kits) and TM4SF2 (show TSPAN7 ELISA Kits) in GBM tumors.
ATD and SRP (show UCN2 ELISA Kits) type III are variants of a single disorder belonging to the ciliopathy group.
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins.
dynein, cytoplasmic 2, heavy chain 1
, cytoplasmic dynein 2 heavy chain 1-like
, cytoplasmic dynein 2 heavy chain 1
, cytoplasmic dynein heavy chain 2
, dynein cytoplasmic heavy chain 2
, dynein heavy chain 11
, dynein heavy chain 2
, dynein heavy chain isotype 1B
, dynein, cytoplasmic, heavy chain 2
, dynein, cytoplasmic, heavy polypeptide 2
, dynein-like protein 4
, dynein heavy chain, isotype 1B