LRRC49

leucine rich repeat containing 49

Ensembl:
ENSG00000137821
UniProt:
Q8IUZ0
OMIM:
620497
Synonyms:
CSTPP2, FLJ20156, PGS4

Cilia effects upon perturbation of LRRC49

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, abnormal sleep behavior, decreased vertical activity

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

C11ORF49 and LRRC49, which we have re- med centriolar satellite-associated tubulin polyglutamylation proteins, CSTPP1 and CSTPP2, respectively, are novel cytoplasmic regulators of both cilium disassembly and nuclear morphology (34782749).