SLMAP3
sarcolemma associated protein 3
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000197217
- OMIM:
- 602990
- Synonyms:
- SLMAP, TAILS
Cilia effects upon perturbation of SLMAP3
- Cilia number / % ciliated:
- Decrease
- Loss-of-function effect:
- Decrease
Phenotypes
- Mouse phenotype:
- Embryonic/perinatal lethality, polycystic kidneys, stunted growth, abnormal organs. Reduced ciliated cells and cilia length in MEFs and chondrocytes.
Subcellular localization
centrosome
References: PMID:39417621
Functional category
- Ciliary assembly/disassembly
Function
SLMAP3 KO mice show polycystic kidneys, reduced ciliated cells, and reduced cilia length in MEFs and chondrocytes. SLMAP3 is essential for organogenesis via primary cilia formation. STRIPAK complex member; centrosome constituent. Loss causes embryonic/perinatal lethality with polycystic kidney and PCP signaling defects (PMID:39417621).