BBOX1

Chr 11

gamma-butyrobetaine hydroxylase 1

Also known as: BBH, BBOX, G-BBH, gamma-BBH

NCBI Gene: 8424ENSG00000129151UniProt: O75936

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
28
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.48
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?
1.48LOEUF
pLI 0.000
Z-score 0.01
OE 1.00 (0.69–1.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.59Z-score
OE missense 0.88 (0.78–1.00)
180 obs / 203.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.00 (0.69–1.48)
0≤0.351.4
Missense OE?0.88 (0.78–1.00)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 18 / 18.0Missense obs/exp: 180 / 203.9Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BBOX1 · 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