DNAH5, Official Symbol DNAH5provided by HGNC Official Full Name dynein axonemal heavy chain 5provided by HGNC Primary source HGNC:HGNC:2950 See related Ensembl:ENSG00000039139 MIM:603335; AllianceGenome:HGNC:2950 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HL1; PCD; CILD3; KTGNR; DNAHC5 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] Expression Biased expression in lung (RPKM 1.0), thyroid (RPKM 0.6) and 10 other tissues See more Orthologs mouse all