LARP4B
Chr 10La ribonucleoprotein 4B
Also known as: KIAA0217, LARP5
This gene encodes a cytoplasmic protein that stimulates mRNA translation through its La motif and RNA recognition motifs. Mutations cause autosomal recessive intellectual disability with developmental delay and microcephaly, typically presenting in early childhood. LARP4B is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
193 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 1 | 2 | 0 | 3 |
VUS | 1 | 96 | 15 | 0 | 112 |
Likely Benign | 0 | 10 | 5 | 1 | 16 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 1 | 107 | 54 | 3 | 165 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LARP4B · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools