Rsph4a gene

Author: nmvm

August undefined, 2024

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 … 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. …

RSPH4A radial spoke head component 4A - NIH Genetic …

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 ). Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene. dickensian outburst

Primary Ciliary Dyskinesia (PCD) via the RSPH4A Gene

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RSPH4A Gene - GeneCards RSH4A Protein RSH4A …

Webrsph4a. 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 … 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. … dickensian orphan crosswordWebGenetic 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 … dickensian orphan phrase meaning

"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. … " - Rsph4a gene

Rsph4a gene

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 … WebRsph4a Gene Detail Summary Symbol. Rsph4a Name. radial spoke head 4 homolog A (Chlamydomonas) Synonyms. Rshl3 Feature Type. protein coding gene. IDs. …

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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 … WebDescription: Homo sapiens radial spoke head component 4A (RSPH4A), transcript variant 1, mRNA. (from RefSeq NM_001010892) RefSeq Summary (NM_001010892): This gene …

WebCOSMIC gene RSPH4A_ENST00000368580 (COSG368580) Genomic coordinates 6:116616624..116632441 (positive strand) Synonyms RSPH4A, CILD11, FLJ37974, … WebKott et al. (2013) identified pathogenic mutations in the RSPH4A gene (see, e.g., 612647.0004-612647.0005) in 7 (14%) of 48 families with a specific CILD phenotype …

WebRSPH4A Antibodies Antibodies that detect RSPH4A can be used in several scientific applications, including Immunohistochemistry, Immunocytochemistry, Western Blot and … 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 …

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 …

Webالصفحة الرئيسية; الأحداث الجارية; أحدث التغييرات; أحدث التغييرات الأساسية citizens bank derry nh phoneWebRSPH4A PIH1D3 STK36 DNAH7 TEKT1 p.Pro108Ser ARMC4 DNAAF3 NME8 DNAH9 VEP annotation stop gained frameshift Pathogenic Pathogenic/Likely pathogenic 5-13735307-C-A missense ... Gene Clinical significance 2-26644264-C-T p.Gln118Ter Conflicting interpretations of pathogenicity 2-26672954-G-A c.1599+1G>A Likely pathogenic 2 … citizens bank delaware branchesWebPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of … dickensian on tvWebJan 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. … citizens bank deposit policyWebDescription: 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 … citizens bank deposit atmWebMar 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 … citizens bank detroit commerical lendingWebAug 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 … dickensian prison crossword