KLHL7

kelch like family member 7

Ensembl:
ENSG00000122550
UniProt:
Q8IXQ5
OMIM:
611119
Synonyms:
KLHL6, RP42, SBBI26

Cilia effects upon perturbation of KLHL7

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.7) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the KLHL7 gene cause Retinitis Pigmentosa (PMID: 19520207, PMID:22084217).