DNAAF19

dynein axonemal assembly factor 19

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000167131
UniProt:: Q8IW40
OMIM:: 614677
Synonyms:: CCDC103, CILD17, FLJ13094, FLJ34211, PR46B

Phenotypes

Mouse phenotype:: decreased lean body mass, increased circulating amylase level, preweaning lethality, complete penetrance, increased total body fat amount
Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:22581229

Subcellular localization

cilia

References: PMID:28790179, PMID:25572396, PMID:31858719, PMID:22581229

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Cell migration & adhesion

Function

Participates in microtubule stabilization that facilitates dynein arm attachment and ciliary motility (28790179). Contributes to axonemal stability. A potential role, is to modify the doublet microtubule to provide a high affinity binding site for the docking complex and needed for dynein attachment (25572396) Binds and stabilises them against cold depolymerization. It is also an outer dynein arm assembly factor (31858719, 22581229)

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