DNAL1
DNAL1 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | DNAL1, C14orf168, CILD16, dynein axonemal light chain 1, LC1 | ||||||||||||||||||||||||
External IDs | OMIM: 610062 MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 14: 73.64 – 73.7 Mb | Chr 12: 84.11 – 84.15 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[5][6]
Function[]
DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.[5][6]
Clinical significance[]
Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.[7]
References[]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000119661 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042523 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: dynein".
- ^ 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
External links[]
Categories:
- Genes on human chromosome 14
- Human chromosome 14 gene stubs