LRBA

LPS responsive beige-like anchor protein

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000198589
UniProt:
P50851
OMIM:
606453
Synonyms:
BGL, CDC4L, LAB300, LBA, UC.147

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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

Mouse phenotype:
absent pin reflex, abnormal ear position, increased circulating calcium level, increased circulating amylase level, increased circulating total protein level, increased circulating alkaline phosphatase level, increased blood urea nitrogen level, increased circulating cholesterol level, decreased circulating chloride level, increased circulating hdl cholesterol level
Human ciliopathy phenotype:
colobomatous microphthalmia-rhizomelic dysplasia syndrome; syndromic microphthalmia

Subcellular localization

cilia

References: PMID:28814779

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Involved in trafficking events between the Golgi apparatus and the apical plasma membrane and/or the cilium base (28814779)