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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for RSPH4A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID345895
Official gene symbolRSPH4A
Full nameradial spoke head 4 homolog A (Chlamydomonas)
Aliases,CILD11,FLJ37974,MGC126303,RSHL3,RSPH6B,dJ412I7.1,
Gene summaryThis 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]
LocationChromosome: 6   Locus: 6q22.1
Gene position116937642 - 116954148  Map Viewer
Gene orientationplus
Gene size16507 bp
Gene sequence
OMIM ID612647