LARP7
Chr 4ARLa ribonucleoprotein 7, transcriptional regulator
Also known as: ALAZS, HDCMA18P, PIP7S, hLARP7
The LARP7 protein binds to specific small nuclear RNAs (7SK and U6 snRNAs) and regulates RNA polymerase II transcriptional elongation and mRNA splicing fidelity through its roles in ribonucleoprotein complexes. Biallelic mutations cause Alazami syndrome, an autosomal recessive disorder. This gene shows low constraint against loss-of-function variants (pLI near zero).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LARP7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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