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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.
Gene Name: | HEAT Repeat Containing 2 |
Synonyms: | DNAAF5, CILD18, HEAT repeat containing 2, HEATR2 |
Target Sequences: | NM_017802 NP_060272.3 Q86Y56 |
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