DNAL1
| DNAL1 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | DNAL1, C14orf168, CILD16, dynein axonemal light chain 1 | |||||
| External IDs | MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1 | |||||
| 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 | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[3][4]
Function
DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.[3][4]
Clinical significance
Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "Entrez Gene: dynein".
- 1 2 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.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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