B3GALT6

Chr 1

beta-1,3-galactosyltransferase 6

Also known as: ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6

NCBI Gene: 126792 ENSG00000176022 UniProt: Q96L58

The protein is a beta-1,3-galactosyltransferase that catalyzes the transfer of galactose to substrates in glycosaminoglycan synthesis, particularly in the linker regions of heparan sulfate and chondroitin sulfate. Biallelic mutations cause autosomal recessive connective tissue disorders including Ehlers-Danlos syndrome spondylodysplastic type 2, spondyloepimetaphyseal dysplasia with joint laxity, and Al-Gazali syndrome. These conditions primarily affect the skeletal system and connective tissues, presenting with joint hypermobility, bone dysplasia, and variable developmental features.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEhlers-Danlos syndrome, spondylodysplastic type, 2

UniProtSpondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures

UniProtAl-Gazali syndrome

Clinical highlights

Gene-disease validity (ClinGen)

B3GALT6-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.43

LOEUF

LOF

Mechanism· G2P

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GeneReview available — B3GALT6