Dynein axonemal heavy chain 6
WebASSOCIATED WITH genetic disease (ortholog); Huntington's disease (ortholog); primary ovarian insufficiency (ortholog) WebMay 1, 2024 · In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified. We identified the likely genetic cause of SI and PCD in one individual, and a possibly significant heterozygosity in the other, both involving dynein …
Dynein axonemal heavy chain 6
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WebApr 25, 2009 · Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or ... WebJul 21, 2004 · The axonemal dynein heavy chain gene Mdnah5 is specifically expressed in ependymal cells, and is essential for ultrastructural and functional integrity of ependymal cilia. In Mdnah5 -mutant mice, lack of ependymal flow causes closure of the aqueduct and subsequent formation of triventricular hydrocephalus during early postnatal brain …
WebFeb 5, 2008 · Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. WebThe \{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. ... also showing axonemal staining. \{WDR34\} coimmunoprecipitates with the dynein-1 light chain \{DYNLL1\} in vitro, and mining of ...
WebDynein Axonemal Heavy Chain 8 promotes androgen receptor activity and associates with prostate cancer progression. Oncotarget May 28, 2016 To gain insight into cellular factors regulating AR ... WebMar 29, 2024 · This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects.
WebJun 7, 2024 · Fanconi anemia (FA), an X-linked genetic or autosomal recessive disease, exhibits complicated pathogenesis. Previously, we detected the mutated Dynein Axonemal Heavy Chain 2 (DNAH2) gene in 2 FA cases.Herein, we further investigated the potential association between DNAH2 and the homologous recombination repair pathway of FA.
WebDescription: Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. RefSeq Summary (NM_001277115): This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. can i give my car backWebJul 10, 2024 · we design to provide clues to prove relationship between dynein heavy chain gene 5 (DNAH5) gene alterations and asthenozoospermia. This also provides a reference for patients to choose a reasonable treatment plan or genetic counseling to assist reproductive reproduction. Patients concern: In the present study, we screened 143 … can i give my baby yogurt for breakfastWebDynein Axonemal Light Chain 4 (DNAL4) protein is understood to be part of the axonemal (or ciliary and flagellar) complex of dynein molecules (including dynein heavy and light chains) (GO:0005858) and a component of the microtubule-based dynein motor … fit walker treadmillWebDynein axonemal heavy chain 1 Curated. Alternative names. Axonemal beta dynein heavy chain 1; Ciliary dynein heavy chain 1; Heat shock regulated protein 1 (HSRF-1) hDHC7; Gene names. Name. DNAH1 Imported. Synonyms. DHC7, DNAHC1, … can i give my baby yogurtWebDynein axonemal heavy chain 11 (DNAH11), is a protein that is encoded by the DNAH11 gene in humans. [5] [6] In mice, the protein is known as Dnahc11 and is encoded by the murine Dnahc11 , the murine homolog to human DNAH11 [7] . fitwalking del cuoreWebMar 21, 2024 · DNAH6 (Dynein Axonemal Heavy Chain 6) is a Protein Coding gene. Diseases associated with DNAH6 include Primary Ciliary Dyskinesia and Spermatogenic Failure 9 . Gene Ontology (GO) … fit waisted topWebMay 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 , . fit walkers people