RSPH4A

Name

radial spoke head component 4A

Type

protein-coding

Position

116,616,474–116,634,765 (+)

Aliases

CILD11, RSHL3, RSPH6B, dJ412I7.1

Ensembl

ENSG00000111834

RefSeq RNA

NM_001010892.3, NM_001161664.2, XM_047418725.1, XM_054355323.1, XM_054355324.1

RefSeq protein

NP_001010892.1, NP_001155136.1, XP_047274681.1, XP_054211298.1, XP_054211299.1

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].

via MyGene.info

Gene · Ensembl

radial spoke head component 4A

Symbol

RSPH4A

Biotype

Protein coding

Organism

Homo sapiens

Location

6:116,616,474-116,634,765

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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