Gene Symbol | DNAH5 |
Entrez Gene ID | 1767 |
Full Name | dynein axonemal heavy chain 5 |
Synonyms | CILD3,DNAHC5,HL1,KTGNR,PCD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) |