QuickView for RSPH4A (gene)

Gene Symbol:

RSPH4A Homo sapiens

Full name:

radial spoke head 4 homolog A

Synonyms:

CILD11, RSHL3, RSPH6B, dJ412I7.1, radial spoke head protein 4 homolog A, radial spoke head-like protein 3, radial spokehead-like 3

Genomic Location:

Chr 6: 117044343-117060834

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Cytogenetic Map:

6q22.1

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