ALG5
ALG5 dolichyl-phosphate beta-glucosyltransferase
- Ensembl:
- ENSG00000120697
- UniProt:
- Q9Y673
- OMIM:
- 604565
- Synonyms:
- BA421P11.2
Cilia effects upon perturbation of ALG5
Ciliogenesis screen results (6 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
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=54, lfc=0.89) PMID:30270045
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.49) PMID:41160700
Phenotypes
- Human ciliopathy phenotype:
- polycystic kidney disease 7
Ciliopathy associations
- Autosomal Dominant Polycystic Kidney Disease
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the ALG5 gene cause Autosomal Dominant Polycystic Kidney Disease (PMID: 35896117).