LRRC34

leucine rich repeat containing 34

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000171757
UniProt:: Q8IZ02
OMIM:: 619037
Synonyms:: MGC27085

Ciliogenesis screen results (5 screens)

Kim2016: No effect
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
Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=5.33) PMID:20393562

Ciliopathy associations

Joubert Syndrome

References: PMID:32055034

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:32055034

Functional category

Ciliary assembly/disassembly

Function

Mutated in Joubert syndrome. Localized along the ciliary shaft in controls but only at ciliary base in LRRC34-/- patient cells, which displayed reduced ciliogenesis potential and muted response of SHH signaling to SAG compared with controls (32055034)

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