GUSB

Chr 7

glucuronidase beta

Also known as: BG, MPS7

NCBI Gene: 2990ENSG00000169919UniProt: P08236

This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMucopolysaccharidosis 7

Clinical highlights

Gene-disease validity (ClinGen)
mucopolysaccharidosis type 7 · 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.
2
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
LOF
Mechanism· G2P
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GeneReview available — GUSB
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.000
Z-score 2.71
OE 0.51 (0.35–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.10Z-score
OE missense 0.84 (0.77–0.92)
315 obs / 374.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.35–0.75)
0≤0.351.4
Missense OE?0.84 (0.77–0.92)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 18 / 35.4Missense obs/exp: 315 / 374.9Syn Z: -0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GUSB · protein map & ClinVar variants

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

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