Dynein intermediate chain 2 ciliary
WebEstablish mathematics goals to focus learning.Effective teaching of mathematics establishes clear goals for the mathematics that students are learning, situates goals … WebDec 16, 2013 · Dynein intermediate chain 2 (DNAI2) may be a candidate gene for PCD/KS according to a report by Pennarun et al.50 It comprises 14 exons, ... Liu Y, et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet. 2012; 44:714–9. [PMC free article] [Google Scholar]
Dynein intermediate chain 2 ciliary
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WebFeb 5, 2013 · - Caused by mutation in the dynein, axonemal, intermediate chain 2 gene (DNAI2, 605483.0001) Close. Primary ciliary dyskinesia - PS244400 - 48 Entries ... Loges et al. (2008) reported a consanguineous Iranian Jewish kindred in which 2 individuals had primary ciliary dyskinesia characterized by neonatal pneumonia, recurrent rhinitis and ... Each molecule of the dynein motor is a complex protein assembly composed of many smaller polypeptide subunits. Cytoplasmic and axonemal dynein contain some of the same components, but they also contain some unique subunits. Cytoplasmic dynein, which has a molecular mass of about 1.5 megadaltons (MDa), is a dimer of dimers, containing approximately twelve polypeptide sub…
WebDynein intermediate chain 2, ciliary. Status. UniProtKB reviewed (Swiss-Prot) Organism. Heliocidaris crassispina (Sea urchin) (Anthocidaris crassispina) Amino acids. 702. ... WebMar 1, 2024 · The dynein-2 complex drives retrograde ciliary protein trafficking by associating with the intraflagellar transport (IFT) machinery, containing IFT-A and IFT-B …
WebPrimary Ciliary Dyskinesia. Margaret W. Leigh MD, in Kendig & Chernick's Disorders of the Respiratory Tract in Children (Eighth Edition), 2012. Dynein arm defects. ... Indeed, a … WebAug 8, 2024 · There is compelling evidence that, in contrast with the dynein-1 intermediate chain, WDR34 does not homodimerize: the endogenous protein fails to co-immunoprecipitate with GFP ... At the ciliary tip, the dynein-2 motor domains must be activated via disruption of the auto-inhibitory interface, releasing the linker and stalk …
WebJun 18, 2024 · Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V, et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia ... china glass bottle factoryWebDec 28, 2010 · Many individuals with PCD have a mutation in a gene encoding a component of the outer dynein arms (molecular motors that power the 9+2 ciliary cytoskeleton or axoneme), particularly in one of the ... graham funeral home chesapeakeWebDec 8, 2024 · Located in 9+2 motile cilium; axoneme; and external side of plasma membrane. Is expressed in spermatozoon and testis. Used to study Kartagener syndrome and primary ciliary dyskinesia. Human ortholog (s) of this gene implicated in primary ciliary dyskinesia 9. Orthologous to human DNAI2 (dynein axonemal intermediate chain 2). … graham funeral home easthampton massWebMay 1, 2001 · The dynein heavy chain family of isoforms is divided into four functional classes: (i) axonemal (ciliary or flagellar) outer arm dyneins; (ii) axonemal inner arm dyneins; (iii) non-axonemal (‘cytoplasmic’) dynein-1, also called MAP1C, Dhc1a and Dyh1; and (iv) cytoplasmic dynein-2, also called Dhc1b and Dyh2 , . china glass bottle soap dispenserWebMost of these cases result from mutation in genes encoding dynein-2 components, such as the heavy chain DYNC2H1 gene (Baujat et al., 2013) and the intermediate chain DYNC212 gene (previously known ... china glass bottle foaming soap dispenserWebNM_023036.6(DNAI2):c.124G>A (p.Val42Met) AND Primary ciliary dyskinesia 9 Clinical significance: Likely benign (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars graham funeral home easthamptonWebThe \{IFT\} dynein-2 motor complex that regulates ciliary retrograde protein transport contains a heavy chain dynein ATPase/motor subunit, DYNC2H1, along with other less well functionally defined subunits. ... thoracic dystrophy). \{WDR34\} encodes a \{WD40\} repeat-containing protein orthologous to Chlamydomonas FAP133, a dynein intermediate ... china glass bottle makers