Gene Symbol | RSPH1 |
Entrez Gene ID | 89765 |
Full Name | radial spoke head 1 homolog |
Synonyms | CT79,RSP44,RSPH10A,TSA2,TSGA2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 24, 615481 (3) |