Rsph4a gene

Author: kchk

August undefined, 2024

WebJan 18, 2024 · The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. … WebAug 5, 2024 · RSPH4A radial spoke head component 4A [ (human)] Gene ID: 345895, updated on 5-Aug-2024. Summary. This gene encodes a protein that appears to be a …

Frontiers Novel RSPH4A Variants Associated With Primary Ciliary …

WebGenetic pulmonary diseases are respiratory conditions commonly passed down in the genes of generational relations. Some diseases are frequently found in the population and can be managed through drug and lifestyle therapies. An excellent example of … WebJan 18, 2024 · The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. … scamp trailers gross weight

Pharos : Target Details - RSPH4A

Webالصفحة الرئيسية; الأحداث الجارية; أحدث التغييرات; أحدث التغييرات الأساسية WebRSPH4A (CILD11, dJ412I7.1, FLJ37974, RSHL3, RSPH6B) Protein classi. Assigned HPA protein class (es) for the encoded protein (s). Read more. Disease related genes. Human … WebThis gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas … scamp trailers headquarters

IJMS Free Full-Text The RSPH4A Gene in Primary Ciliary …

NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His) AND …

WebDescription: Homo sapiens radial spoke head component 4A (RSPH4A), transcript variant 1, mRNA. (from RefSeq NM_001010892) RefSeq Summary (NM_001010892): This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other … WebIdentifying the differentially expressed genes (DEGs) profile, the cilia-related genes expression levels and the morphological characteristics of ciliated cells sayno law officeWebJun 22, 2024 · The radial spoke head component 4A ( RSPH4A) is involved in the assembly of radial spokes, which is essential for motile cilia function. The genes belong to the … scamp trailers images

"WebIt is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing primary ciliary dyskinesia (PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (PCD with situs inversus totalis ). " - Rsph4a gene

Rsph4a gene

Pharos : Target Details - RSPH4A - National Institutes of Health

WebMar 20, 2012 · Mutations in RSPH4A were identified in three of these 24 patients, suggesting that mutations in this gene may be involved in over 12% of PCD families with … WebMar 23, 2024 · Here, we show the role of the primary ciliary dyskinesia causal gene Rsph4a in the mouse motile cilia. We have found that Rsph4a plays a central role in all the three …

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WebPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of … WebCOSMIC gene RSPH4A_ENST00000368580 (COSG368580) Genomic coordinates 6:116616624..116632441 (positive strand) Synonyms RSPH4A, CILD11, FLJ37974, …

WebProbable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to …

WebMar 21, 2024 · RSPH4A (Radial Spoke Head Component 4A) is a Protein Coding gene. Diseases associated with RSPH4A include Ciliary Dyskinesia, Primary, 11 and Primary Ciliary Dyskinesia . An important paralog of this gene is RSPH6A. UniProtKB/Swiss-Prot … WebRSPH4A is comprised of 6 exons and, to date, just three nonsense variants (two in exon 1 and one in exon 3) have been described in 5 unrelated families (Castleman et al. 2009). All …

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WebApr 4, 2024 · RSPH4A. radial spoke head component 4A. Gene ID: 345895, updated on 9-Mar-2024. Gene type: protein coding. Also known as: RSHL3; CILD11; RSPH6B; dJ412I7.1. … saynorth.orgWebDescription: Homo sapiens radial spoke head component 4A (RSPH4A), transcript variant 1, mRNA. (from RefSeq NM_001010892) RefSeq Summary (NM_001010892): This gene … scamp trailers insulationWebSequence variants and/or copy number variants (deletions/duplications) within the RSPH4A gene will be detected with >99% sensitivity. Variants classified as unknown significance … saynor court madisonWebrsph4a. Predicted to be involved in axoneme assembly and cilium movement. Predicted to localize to axoneme. Is expressed in midbrain; otic placode; pronephric duct; and spinal … saynotofod twitterWebClinVar archives and aggregates information about relationships among variation and human health. sayner wi weather radarWebRsph4a Gene Detail Summary Symbol. Rsph4a Name. radial spoke head 4 homolog A (Chlamydomonas) Synonyms. Rshl3 Feature Type. protein coding gene. IDs. … scamp trailers in mesaWebالصفحة الرئيسية; الأحداث الجارية; أحدث التغييرات; المواضيع; أبجدي; بوابات; مقالة عشوائية ... scamp trailers in backus mn