DNAAF11

dynein axonemal assembly factor 11

Ensembl:: ENSG00000129295
UniProt:: Q86X45
OMIM:: 614930
Synonyms:: CILD19, LRRC6, LRTP, TILB, TSLRP

Cilia effects upon perturbation of DNAAF11

Phenotypes

Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Male Infertility
Primary Ciliary Dyskinesia

Subcellular localization

flagella

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
T cell biology
Reproduction & sperm
Cell migration & adhesion

Function

Plays a role in cytoplasmic preassembly of dynein arms, essential for proper axonemal assembly (23122589). Involved in the transport of the preassembled outer dynein arm complex to the axoneme and in transcriptio l regulation of some dynein proteins (27353389 23527195). Mutations lead to primary ciliary dyskinesia with laterality defects (23527195)

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