ZMYND10

Cilia effects upon perturbation of ZMYND10

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation

Function

Recessive biallelic mutations in ZMYND10 cause a form of PCD in which patients lack inner dynein arms and outer dynein arms and lack axonemal protein components D H5 and D LI1 from respiratory cilia (CILD22, OMIM:63395) (23891469). Interacts with LRCC6, also a cause of PCD (CILD19, OMIM:614930). LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-termi l domain (23891469). Colocalizes with SAS6 and PCM at the centriole in rat trachea (23891469). Stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms (29601588). Functions in a chaperone relay during axonemal dynein assembly (29916806)

Model organism evidence