GGACT

Chr 13

gamma-glutamylamine cyclotransferase

Also known as: A2LD1

NCBI Gene: 87769ENSG00000134864UniProt: Q9BVM4OMIM: 613378

The encoded gamma-glutamylaminecyclotransferase breaks down protein cross-links formed by transglutaminases, specifically catalyzing the conversion of L-gamma-glutamyl-L-epsilon-lysine to 5-oxo-L-proline and contributing to the degradation of crosslinked fibrin. Mutations cause autosomal recessive glutamic aciduria type 3, characterized by elevated urinary glutamic acid levels. This gene is not highly constrained against loss-of-function variants.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.92
Clinical Summary— GGACT
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.92LOEUF
pLI 0.001
Z-score -0.59
OE 1.38 (0.61–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.13Z-score
OE missense 0.69 (0.57–0.84)
73 obs / 105.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.38 (0.61–1.92)
0≤0.351.4
Missense OE0.69 (0.57–0.84)
0≤0.61.4
Synonymous OE0.65
0≤1.21.6
LoF obs/exp: 4 / 2.9Missense obs/exp: 73 / 105.5Syn Z: 2.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GGACT · 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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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