DNAL1
| Dynein, axonemal, light chain 1 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbols | DNAL1 ; C14orf168; CILD16 | ||||||||
| External IDs | OMIM: 610062 MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1 Gene | ||||||||
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| Orthologs | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | 83544 | 105000 | |||||||
| Ensembl | ENSG00000119661 | ENSMUSG00000042523 | |||||||
| UniProt | Q4LDG9 | Q05A62 | |||||||
| RefSeq (mRNA) | NM_001201366 | NM_028821 | |||||||
| RefSeq (protein) | NP_001188295 | NP_083097 | |||||||
| Location (UCSC) | Chr 14: 74.11 – 74.17 Mb | Chr 12: 84.11 – 84.15 Mb | |||||||
| PubMed search | |||||||||
Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[1][2]
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
- ↑ 1.0 1.1 "Entrez Gene: dynein".
- ↑ 2.0 2.1 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
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.