Aliases for RSPH4A Gene
External Ids for RSPH4A Gene
Previous HGNC Symbols for RSPH4A Gene
Previous GeneCards Identifiers for RSPH4A Gene
This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
GeneCards Summary for RSPH4A Gene
RSPH4A (Radial Spoke Head 4 Homolog A) is a Protein Coding gene. Diseases associated with RSPH4A include Ciliary Dyskinesia, Primary, 11 and Primary Ciliary Dyskinesia. An important paralog of this gene is RSPH6A.
UniProtKB/Swiss-Prot for RSPH4A Gene
Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.