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DNAH5


Official Full Name
dynein axonemal heavy chain 5
Organism
Homo sapiens
Gene ID
1767
Background
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
Synonyms
HL1; PCD; CILD3; KTGNR; DNAHC5

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