DNAAF11

dynein axonemal assembly factor 11

Tier: Cilia-Associated Genes

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

Phenotypes

Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Male Infertility
Primary Ciliary Dyskinesia

References: PMID:38934611, PMID:23122589, PMID:23891469

Subcellular localization

cytosol

References: PMID:23122589, PMID:27353389, PMID:23527195

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm
Cell migration & adhesion
Dynein arm assembly

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 transcriptional regulation of some dynein proteins (27353389 23527195). Mutations lead to primary ciliary dyskinesia with laterality defects (23527195)

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