- DNAL1
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Dynein, axonemal, light chain 1 Identifiers Symbols DNAL1; C14orf168; MGC12435 External IDs OMIM: 610062 MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1 Gene Gene Ontology Molecular function • protein binding Sources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 83544 105000 Ensembl ENSG00000119661 ENSMUSG00000042523 UniProt Q4LDG9 Q05A62 RefSeq (mRNA) NM_001201366.1 NM_028821.3 RefSeq (protein) NP_001188295.1 NP_083097.2 Location (UCSC) Chr 14:
74.11 – 74.17 MbChr 12:
85.46 – 85.49 MbPubMed search [1] [2] Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[1][2]
Contents
Function
DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.[1][2]
Clinical significance
Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.[3]
References
- ^ a b "Entrez Gene: dynein". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83544.
- ^ a b Horváth J, Fliegauf M, Olbrich H, Kispert A, King SM, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R, Omran H (July 2005). "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients". Am. J. Respir. Cell Mol. Biol. 33 (1): 41–7. doi:10.1165/rcmb.2004-0335OC. PMID 15845866.
- ^ Lancaster MA, Gleeson JG (June 2009). "The primary cilium as a cellular signaling center: lessons from disease". Curr. Opin. Genet. Dev. 19 (3): 220–9. doi:10.1016/j.gde.2009.04.008. PMC 2953615. PMID 19477114. http://linkinghub.elsevier.com/retrieve/pii/S0959-437X(09)00086-0.
External links
Nephrocystin Basal body Cilia Dynein Radial spokes RSPH1 · RSPH3 · RSPH4A · RSPH6A · RSPH9 · RSPH10BOther see also ciliopathy
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)This article incorporates text from the United States National Library of Medicine, which is in the public domain.
Categories:- Human proteins
- Genetics stubs
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