B3GALT6

beta-1,3-galactosyltransferase 6

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000176022
OMIM:: 615291
Synonyms:: BETA3GALT6

Ciliogenesis screen results (1 screens)

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

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:34529350

Function

Mutations in B3GALT6 cause Skeletal Ciliopathy (PMID: 34529350).

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