GOLGA3

golgin A3

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000090615
UniProt:: Q08378
OMIM:: 602581
Synonyms:: GCP170, GOLGIN-160, MEA-2

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

Mouse phenotype:: impaired glucose tolerance, increased circulating alkaline phosphatase level, decreased hemoglobin content

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:32367404

Subcellular localization

cytosol, nucleus

Functional category

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

Function

Mutations in the GOLGA3 gene cause Primary Ciliary Dyskinesia (PMID: 32367404).

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