ZCCHC8
zinc finger CCHC-type containing 8
- Ensembl:
- ENSG00000033030
- UniProt:
- Q6NZY4
- OMIM:
- 616381
- Synonyms:
- DKFZP434E2220
Cilia effects upon perturbation of ZCCHC8
Ciliogenesis screen results (5 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
- Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.48) PMID:20393562
Phenotypes
- Human ciliopathy phenotype:
- pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
- Protein processing & maturation
Function
Homozygous mice (Zcchc8-/-) develop a progressive and fatal neurodevelopmental pathology with features of a ciliopathy. These mice may be useful for studying telomerase RNA (TR) maturation and global RNA processing(PMID: 31488579).