B4GALT1

Chr 9p21.1

beta-1,4-galactosyltransferase 1

Aliases:: beta4Gal-T1
MANE:: ENST00000379731.5

OMIM: 137060 ↗NCBI: 2683 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

B4GALT1 · P15291

v62025-08-01

Predicted Aligned Error matrix for B4GALT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.8/ 100

Confident

398 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)11%
Low(50–70)8%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

B4GALT1-congenital disorder of glycosylation
0.75
neurodegenerative disease
0.55
congenital disorder of glycosylation type II
0.53
gout
0.47
combined low LDL and fibrinogen
0.38
Alzheimer disease
0.38
Parkinson disease
0.37
congenital disorder of glycosylation
0.37
multiple sclerosis
0.37
autoimmune disorder of central nervous system
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Beta-1,4-galactosyltransferase 1

Galactosyltransferase acting in the Golgi stacks. Catalyzes the transfer of galactose (Gal) from UDP-alpha-D-galactose in beta(1->4) linkage to the non-reducing terminal N-acetylglucosamine (GlcNAc) moieties of glycolipids and complex-type N-linked glycans (PubMed:16157350, PubMed:27872474, PubMed:29133956, PubMed:36280670, PubMed:37632720, PubMed:38321209). Adds one Gal residue to both GlcNAc beta(1->2)-linked to the alpha(1->3) and alpha(1->6) mannose antennae of complex-type N-glycans, enabling the formation of mono- and di-galactosylated glycoforms. Galactosylates complex-type N-glycans attached on the fragment crystallizable (Fc) of immunoglobulin-gamma isotypes (IgGs), a prerequisite for antibody glycan sialylation and related anti-inflammatory effector functions (PubMed:27872474, PubMed:29133956, PubMed:36280670, PubMed:37632720). Can also transfer a Gal residue to free GlcNAc to form N-acetyllactosamine (PubMed:16157350). With LALBA/alpha-lactalbumin forms the lactose synthase complex responsible for production of large amounts of lactose in the lactating mammary gland. Interaction with LALBA alters the sugar substrate specificity of the catalytic domain, enabling high affinity binding of glucose and its transformation to lactose (PubMed:16157350)