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RSPH4A 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. De plus, nous expédions RSPH4A Anticorps (23) et beaucoup plus de produits pour cette protéine.
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A novel mutation causing primary ciliary dyskinesia was found in Japanese patients.
Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9.
the c.921+3_6delAAGT splice site mutation in RSPH4A is a founder mutation that is a common cause of PCD without situs abnormalities in patients of Hispanic Puerto Rican descent.
Mutations in RSPH4A leads to ultrastructural cilia defects and ciliary dyskinesia.
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.
radial spoke head protein 4 homolog A
, radial spoke head-like protein 3
, radial spokehead-like 3