FAM20B

Chr 1

FAM20B glycosaminoglycan xylosylkinase

Also known as: gxk1

NCBI Gene: 9917ENSG00000116199UniProt: O75063

Enables phosphotransferase activity, alcohol group as acceptor. Predicted to be involved in proteoglycan biosynthetic process. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital disorder of glycosylation · ARLimitednot for standalone diagnostic reporting
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
LOEUF
—
Mechanism
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?
0.91LOEUF
pLI 0.000
Z-score 1.86
OE 0.56 (0.36–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.98Z-score
OE missense 0.82 (0.73–0.93)
196 obs / 238.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.36–0.91)
0≤0.351.4
Missense OE?0.82 (0.73–0.93)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 12 / 21.3Missense obs/exp: 196 / 238.6Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM20B · 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.

Search ClinicalTrials.gov →

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