基因名:
Rsph4a
产品别名:
CG3121; Dmel\CG3121; anon-WO0140519.109; dRSPH4a; Rsph4a; Radial spoke head protein 4a; Radial spoke head protein 4a; radial spoke head protein 4a; CG3121-PA; Rsph4a-PA; Kartagener综合征相关蛋白RSHL3;
背景信息:
RSHL3 is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. RSHL3 (radial spoke head-like protein 3), also known as radial spoke head protein 4 homolog A, is a 716 amino acid protein that belongs to the flagellar radial spoke RSP4/6 family. Mutations in the RSHL3 gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Existing as three alternatively spliced isoforms, the RSHL3 gene contains 6 exons, is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly and P.falciparum, and maps to human chromosome 6q22.1.