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).