DRG1

Chr 22AR

developmentally regulated GTP binding protein 1

Also known as: NEDD3, TANALS

DRG1 encodes a stress-responsive protein that regulates microtubule dynamics, maintains mitotic spindle integrity, and is essential for peripheral nerve myelin sheath development and maintenance. Biallelic mutations cause Tan-Almurshedi syndrome, an autosomal recessive disorder affecting the nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.53), reflecting its importance in cellular function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.531 OMIM phenotype
Clinical SummaryDRG1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.53LOEUF
pLI 0.329
Z-score 2.96
OE 0.23 (0.110.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.21Z-score
OE missense 0.56 (0.480.66)
114 obs / 202.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.23 (0.110.53)
00.351.4
Missense OE0.56 (0.480.66)
00.61.4
Synonymous OE1.05
01.21.6
LoF obs/exp: 4 / 17.3Missense obs/exp: 114 / 202.4Syn Z: -0.33
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateDRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome)LOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6648th %ile
GOF
0.5366th %ile
LOF
0.4233th %ile

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

DRG1 · 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

No active trials found for this gene.

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Clinical Literature
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