DNAL1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Dynein, axonemal, light chain 1
Identifiers
Symbols DNAL1 ; C14orf168; CILD16
External IDs OMIM610062 MGI1921462 HomoloGene34623 GeneCards: DNAL1 Gene
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 [1] [2]

Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[1][2]

Function[edit]

DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.[1][2]

Clinical significance[edit]

Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.[3]

References[edit]

  1. ^ a b "Entrez Gene: dynein". 
  2. ^ 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. 
  3. ^ 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[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.