LTV1

Chr 6

LTV1 ribosome biogenesis factor

Also known as: C6orf93, IPHAK, dJ468K18.4

NCBI Gene: 84946ENSG00000135521UniProt: Q96GA3

Predicted to be involved in ribosomal small subunit biogenesis and ribosomal small subunit export from nucleus. Located in cytosol and nucleoplasm. Implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtInflammatory poikiloderma with hair abnormalities and acral keratoses
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
DN
Mechanism· predicted
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?
0.87LOEUF
pLI 0.000
Z-score 2.10
OE 0.57 (0.39–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.44Z-score
OE missense 0.92 (0.82–1.03)
225 obs / 244.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.39–0.87)
0≤0.351.4
Missense OE?0.92 (0.82–1.03)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 16 / 28.0Missense obs/exp: 225 / 244.3Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LTV1 · 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