UBIAD1

Chr 1

UbiA prenyltransferase domain containing 1

Also known as: SCCD, TERE1

NCBI Gene: 29914ENSG00000120942UniProt: Q9Y5Z9

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCorneal dystrophy, Schnyder type
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.03
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — UBIAD1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
1.03LOEUF
pLI 0.020
Z-score 1.53
OE 0.45 (0.22–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.12Z-score
OE missense 0.76 (0.67–0.88)
137 obs / 179.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.22–1.03)
0≤0.351.4
Missense OE?0.76 (0.67–0.88)
0≤0.61.4
Synonymous OE?1.26
0≤1.21.6
LoF obs/exp: 4 / 8.9Missense obs/exp: 137 / 179.1Syn Z: -1.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UBIAD1 · 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