RSPH4A

radial spoke head component 4A

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000111834
UniProt:: Q5TD94
OMIM:: 612647
Synonyms:: CILD11, DJ412I7.1, FLJ37974, RSHL3, RSPH6B

Cilia effects upon perturbation of RSPH4A

Loss-of-function effect:: No effect

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:: primary ciliary dyskinesia

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:19200523, PMID:23798057

Subcellular localization

cilia, nucleus

References: PMID:42010243, PMID:26073779, PMID:25789548, PMID:32203505

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Cell migration & adhesion

Function

Component of spoke heads. Plays a central role in the assembly of all the three- types of RS. Contributes to the generation of the planar beating of motile cilia by building the distal architecture of radial spokes, regulating the motion pattern of the mouse motile cilia. Mutations lead to most severe phenotype of PCD with central complex defects and near absence of radial spokes (26073779, 25789548) Essential for the triplet radial spoke head assembly of the mouse motile cilia (32203505).

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