PQBP1

Chr XXLR

polyglutamine binding protein 1

ENSG00000102103UniProt: O60828OMIM: 300463

This gene encodes a nuclear polyglutamine-binding protein that functions as a scaffold protein involved in pre-mRNA splicing, transcription regulation, and neuron development. Mutations cause Renpenning syndrome, an X-linked recessive intellectual disability disorder. The gene has a GeneReviews entry providing detailed clinical information for affected families.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLRLOEUF 0.501 OMIM phenotype
Clinical Summary— PQBP1
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Gene-Disease Validity (ClinGen)
Renpenning syndrome · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.79) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.50LOEUF
pLI 0.789
Z-score 2.56
OE 0.11 (0.04–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.92Z-score
OE missense 0.52 (0.42–0.64)
65 obs / 125.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.11 (0.04–0.50)
0≤0.351.4
Missense OE0.52 (0.42–0.64)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 1 / 9.5Missense obs/exp: 65 / 125.5Syn Z: 0.23
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitivePQBP1-related Renpenning syndromeLOFXLR
DN
0.3594th %ile
GOF
0.4776th %ile
LOF
0.73top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.50

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

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PQBP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Disrupting PQBP1-eEF2 protein-protein interaction: From synaptic translation to immunity and cancer.
Kamel EM et al.·Neurochem Int
2026
Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review.
Zhang M et al.·Front Genet
2026Open AccessReview
The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.
Yuan L et al.·Nat Commun
2026Open Access
[Clinical analysis of a child with heterotopic ventricular gray matter Renpenning syndrome caused by PQBP1 gene mutation and a literature review].
Fan Y et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025Review
Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.
Pan J et al.·Appl Neuropsychol Child
2025Review
Top 5 resultsSearch Europe PMC ↗

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