SLC7A14

solute carrier family 7 member 14

Ensembl:
ENSG00000013293
UniProt:
Q8TBB6
OMIM:
615720
Synonyms:
KIAA1613, PPP1R142

Cilia effects upon perturbation of SLC7A14

Ciliogenesis screen results (3 screens)

  • 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:
retinitis pigmentosa

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the SLC7A14 gene cause Retinitis Pigmentosa (PMID: 24670872).