GGTA1

Chr 9

glycoprotein alpha-galactosyltransferase 1 (inactive)

Also known as: GGTA, GGTA1P, GLYT2, a1/3GTP

Alpha-1,3-galactosyltransferase is an enzyme that is normally non-functional in humans due to evolutionary loss of its catalytic domain, unlike in most other mammals. Aberrant expression of this protein can lead to autoimmune diseases and germ cell tumors. The inheritance pattern for pathogenic variants in this gene is not well-established in the provided information.

OMIMResearchSummary from RefSeq
Multiplemechanism
Clinical SummaryGGTA1
📋
ClinVar Variants
12 unique Pathogenic / Likely Pathogenic of 19 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.75top 25%
GOF
0.72top 25%
LOF
0.3259th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

19 submitted variants in ClinVar

Classification Summary

Pathogenic12
12
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
12
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total12

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GGTA1 · 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.

Search ClinicalTrials.gov →
Clinical Literature
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