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HEATR2

Official Full Name
dynein axonemal assembly factor 5
Organism
Homo sapiens
GeneID
54919
Background
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Synonyms
DNAAF5; CILD18; HEATR2;

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