B4GALT6

Chr 18

beta-1,4-galactosyltransferase 6

Also known as: B4Gal-T6, beta4Gal-T6

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]

0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.37
LOEUF
Mechanism
Clinical SummaryB4GALT6
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.91). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.37LOEUF
pLI 0.908
Z-score 3.63
OE 0.14 (0.060.37)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.70Z-score
OE missense 0.68 (0.590.78)
149 obs / 220.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.14 (0.060.37)
00.351.4
Missense OE0.68 (0.590.78)
00.61.4
Synonymous OE0.90
01.21.6
LoF obs/exp: 3 / 20.9Missense obs/exp: 149 / 220.1Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

B4GALT6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC