CLCC1

chloride channel CLIC like 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000121940
UniProt:
Q96S66
OMIM:
617539
Synonyms:
MCLC

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
Human ciliopathy phenotype:
retinitis pigmentosa 32

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:30157172

Subcellular localization

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).