RSPH4A, Official Symbol RSPH4Aprovided by HGNC Official Full Name radial spoke head component 4Aprovided by HGNC Primary source HGNC:HGNC:21558 See related Ensembl:ENSG00000111834 MIM:612647; AllianceGenome:HGNC:21558 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 RSHL3; CILD11; RSPH6B; dJ412I7.1 Summary 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] Expression Biased expression in lung (RPKM 1.6), testis (RPKM 0.8) and 13 other tissues See more Orthologs mouse all