B4GALT7

Chr 5AR

beta-1,4-galactosyltransferase 7

NCBI Gene: 11285 ENSG00000027847 UniProt: Q9UBV7 OMIM: 604327

The enzyme attaches the first galactose in the tetrasaccharide linkage region required for proteoglycan biosynthesis, particularly small proteoglycans in skin fibroblasts. Mutations cause spondylodysplastic Ehlers-Danlos syndrome, a connective tissue disorder affecting skeletal development and joint hypermobility with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation (pLI 0.0001, LOEUF 1.11).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.111 OMIM phenotype

Clinical Summary— B4GALT7

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Gene-Disease Validity (ClinGen)

Ehlers-Danlos syndrome, spondylodysplastic type, 1 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.11LOEUF

pLI 0.000

Z-score 1.28

OE 0.62 (0.36–1.11)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.31Z-score

OE missense 1.06 (0.95–1.18)

227 obs / 214.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.62 (0.36–1.11)

0≤0.351.4

Missense OE?1.06 (0.95–1.18)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 8 / 13.0Missense obs/exp: 227 / 214.2Syn Z: -0.58

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveB4GALT7-related spondylo-dysplastic Ehlers Danlos syndromeLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.6356th %ile

GOF

0.5857th %ile

LOF

0.3649th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.