Aliases for RSPH1 Gene
External Ids for RSPH1 Gene
Previous HGNC Symbols for RSPH1 Gene
Previous GeneCards Identifiers for RSPH1 Gene
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]
GeneCards Summary for RSPH1 Gene
RSPH1 (Radial Spoke Head 1 Homolog) is a Protein Coding gene. Diseases associated with RSPH1 include Ciliary Dyskinesia, Primary, 24 and Primary Ciliary Dyskinesia 24: Rsph1-Related Primary Ciliary Dyskinesia. An important paralog of this gene is RSPH10B.
UniProtKB/Swiss-Prot for RSPH1 Gene
May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.