LRBA

Cilia effects upon perturbation of LRBA

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

Mouse ciliopathy phenotype:

increased circulating creatinine level

Human ciliopathy phenotype:

colobomatous microphthalmia-rhizomelic dysplasia syndrome; syndromic microphthalmia

Subcellular localization

cilia

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)