Dynein axonemal assembly factor
Webccdc40基因突变导致不动纤毛综合征一例报道及文献复习. 2015-08-10 文小艳 陈鹏 刘富华 郑璨 韦晓莲 侯显良 WebDec 8, 2024 · 55172 - Gene ResultDNAAF2 dynein axonemal assembly factor 2 [ (human)] This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation.
Dynein axonemal assembly factor
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WebIn two of the seven patients with PCD, four novel dynein axonemal assembly factor 1 (DNAAF1) mutations were identified (NM_178452.6:c.3G>A, c.124+1G>C, c.509delG and c.943A>T) in three alleles. Both of these patients had long‑standing infertility. WebOct 17, 2013 · Tarkar et al. (2013) hypothesized that DYX1C1 represents a new cytoplasmic axonemal dynein assembly factor, possibly acting together with DNAAF2 at an early step in cytoplasmic assembly of the inner and outer dynein arms. The authors proposed the designation 'DNAAF4.' Molecular Genetics.
Web18 hours ago · Abstract. Reproduction involves a wide range of biological processes, including organ formation and development, neuroendocrine regulation, hormone production, and meiosis and mitosis. Infertility, the failure of reproduction, has become a major issue for human reproductive health and affects up to one in seven couples … WebDynein was first discovered in the ciliary axoneme, where it causes the directed sliding between outer doublet microtubules that underlies ciliary bending. ... The detailed …
WebDescription: Homo sapiens dynein axonemal assembly factor 1 (DNAAF1), transcript variant 1, mRNA. (from RefSeq NM_178452) RefSeq Summary (NM_178452): The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based … WebFeb 26, 2024 · Andrés-Benito P, Povedano M, Torres P, Portero-Otín M, Ferrer I. Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis. J Neuropathol Exp Neurol. 2024;78: 416–425. pmid:30939186 . View Article PubMed/NCBI
WebPresent understanding of the sequential steps in axonemal dynein assembly rests largely on genetic studies in Chlamydomonas, a single-celled alga that swims by beating its two …
WebJan 5, 2024 · * 612517 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 2; DNAAF2 Alternative titles; symbols KINTOUN, MEDAKA, HOMOLOG OF; KTU CHROMOSOME 14 OPEN READING FRAME 104; C14ORF104 HGNC Approved Gene Symbol: DNAAF2 Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,625,174 … east lake sammamish parkway neWebMar 15, 2024 · Abstract Mutations in SPAG1, a dynein axonemal assembly factor (DNAAF) that facilitates the assembly of dynein arms in the cytoplasm before their transport into the cilium, result in primary ciliary dyskinesia (PCD), a genetically heterogenous disorder characterized by chronic oto-sino-pulmonary disease, infertility … east lakes at the meadowsWebJan 29, 2024 · Functional analysis showed that LRRC50 deficiency resulted in disrupted assembly of DNAH5 ( 603335 )- and DNAI2 ( 605483 )-containing outer dynein arms, … cultural and education rightsWebMar 4, 2012 · Cilia dysmotility and left-right axis defects due to mutations in axonemal dynein assembly factor PF22 (DNAAF3) in pr imary ciliary dyskinesia. Hannah M. Mitchison, 1,* Miriam Schmidts, 1 Niki T ... eastlakes discount chemistWebNX_Q8NEP3 - DNAAF1 - Dynein axonemal assembly factor 1 - Function. Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. cultural and creative products in chinaWebApr 9, 2024 · The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. … cultural and ethnic considerationsWebAug 3, 2024 · Dynein heavy chain organization and assembly of the outer dynein arm. (A) Dynein HCs generally consist of ∼4500 residues. There is usually an N-terminal domain (DHC-1N) that, in dyneins that contain two motors, is involved in inter-HC interactions … eastlake senior center - eastlake