| DNAH5 |
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| Identifiers |
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| Aliases | DNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5 |
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| External IDs | OMIM: 603335; MGI: 107718; HomoloGene: 1048; GeneCards: DNAH5; OMA:DNAH5 - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 15 (mouse) |
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| | Band | 15 B1|15 10.9 cM | Start | 28,203,898 bp |
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| End | 28,472,198 bp |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - bronchial epithelial cell
- mucosa of paranasal sinus
- epithelium of nasopharynx
- olfactory zone of nasal mucosa
- nasal epithelium
- right uterine tube
- pancreatic ductal cell
- testicle
- gonad
- islet of Langerhans
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| | Top expressed in | - olfactory epithelium
- lumbar spinal ganglion
- secondary oocyte
- right lung
- dentate gyrus of hippocampal formation granule cell
- spermatid
- right lung lobe
- primary visual cortex
- triceps brachii muscle
- trachea
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| | More reference expression data |
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| BioGPS | |
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| Wikidata |
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Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.
DNAH5 is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.2 DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.3
During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.3
Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.4