CCDC32

coiled-coil domain containing 32

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000128891
UniProt:: Q9BV29
OMIM:: 618941
Synonyms:: C15ORF57, MGC20481

Cilia effects upon perturbation of CCDC32

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Phenotypes

Mouse phenotype:: decreased leukocyte cell number, preweaning lethality, complete penetrance, increased circulating calcium level

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:32307552

Functional category

Ciliary assembly/disassembly
Signaling (Hedgehog, GPCRs, ion channels)

Function

In the retina, CDH23 is located in the inner segment, connecting cilia, and basal body complex, as well as the ribbon sy pses of rod and cone photoreceptor cells (40429749). The number and length of cilia in Kupffer’s vesicle is decreased following ccdc32 depletion (PMID: 32307552)

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