B3GALT6
beta-1,3-galactosyltransferase 6
- Ensembl:
- ENSG00000176022
- OMIM:
- 615291
- Synonyms:
- BETA3GALT6
Cilia effects upon perturbation of B3GALT6
Ciliogenesis screen results (1 screen)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.21) PMID:26167766
Phenotypes
- Mouse phenotype:
- preweaning lethality; complete penetrance; embryonic lethality prior to organogenesis; abnormal eye morphology; fibro-osseous lesion; embryonic lethality prior to tooth bud stage; hyperplasia
- Mouse ciliopathy phenotype:
- fibrosis
Subcellular localization
Ciliary associated gene
Function
Mutations in B3GALT6 cause Skeletal Ciliopathy (PMID: 34529350).