B4GALNT1

Chr 12AR

beta-1,4-N-acetyl-galactosaminyltransferase 1

Also known as: GALGT, GALNACT, GalNAc-T, SPG26

NCBI Gene: 2583ENSG00000135454UniProt: Q00973OMIM: 601873

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spastic paraplegia 26, autosomal recessiveMIM #609195
AR

Clinical highlights

Gene-disease validity (ClinGen)
complex hereditary spastic paraplegia · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
—
Mechanism
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GeneReview available — B4GALNT1
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.000
Z-score 2.31
OE 0.48 (0.30–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.92Z-score
OE missense 0.85 (0.77–0.94)
267 obs / 313.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.30–0.79)
0≤0.351.4
Missense OE?0.85 (0.77–0.94)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 11 / 23.0Missense obs/exp: 267 / 313.0Syn Z: 0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

B4GALNT1 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients