CLCC1

Cilia effects upon perturbation of CLCC1

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.44) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

embryonic growth retardation, increased mean corpuscular hemoglobin concentration, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, abnormal embryo size

Mouse ciliopathy phenotype:

abnormal embryo turning

Human ciliopathy phenotype:

retinitis pigmentosa 32

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene, endoplasmic reticulum, lysosomes, nucleus

Functional category

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

Function

Mutations in the CLCC1 gene cause Retinitis Pigmentosa (PMID: 30157172).