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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GGTA1
glycoprotein alpha-galactosyltransferase 1 (inactive)
Chromosome 9 · 9q33.2
NCBI Gene: 2681Ensembl: ENSG00000204136.13HGNC: HGNC:4253UniProt: Q4G0N0
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
leukotriene D4 biosynthetic processGolgi cisternaGolgi cisterna membraneAnisometropiaalcohol drinkingmultinodular goiterearly-onset non-syndromic cataract
✦AI Summary

GGTA1 encodes α1,3-galactosyltransferase, an enzyme that synthesizes the α-gal epitope on cell surface glycoproteins and glycolipids 1. In humans and Old World primates, GGTA1 is naturally inactivated by frameshift mutations, resulting in loss of α-gal epitope expression and production of naturally occurring anti-Gal antibodies that recognize this xenoantigen 1. The α-gal epitope is the primary carbohydrate barrier to pig-to-human xenotransplantation; human preformed antibodies targeting this antigen mediate hyperacute rejection 2. GGTA1 knockout in donor pigs, often combined with inactivation of CMAH and β4GalNT2 genes, substantially reduces human antibody binding to porcine cells and xenograft immunogenicity 23. Clinical xenotransplant studies using GGTA1-knockout pig kidneys demonstrate that genetic modification alone is insufficient to prevent rejection without comprehensive immunosuppression; acute antibody-mediated rejection still occurs despite GGTA1 elimination, driven by T cell responses and antibodies targeting non-α-gal epitopes 45. GGTA1 knockout pigs also exhibit reduced platelet consumption and lower anti-gal-mediated hemolysis, improving xenotransfusion viability 63. While GGTA1 inactivation represents a critical first step in xenotransplantation, addressing remaining immunological barriers requires additional genetic modifications and optimized immunosuppressive protocols.

Sources cited
1
GGTA1 encodes α1,3-galactosyltransferase that synthesizes α-gal epitope; gene is naturally inactivated in humans and Old World primates, resulting in anti-Gal antibody production
PMID: 25315716
2
GGTA1/CMAH/β4GalNT2 triple knockout reduces human IgM and IgG binding to pig cells compared to single or double knockouts
PMID: 25728481
3
GGTA1/CMAH knockout erythrocytes reduce human antibody-mediated hemolysis 9-fold compared to GGTA1 knockout alone
PMID: 24986655
4
GGTA1 knockout pigs with additional genetic modifications still experience acute antibody-mediated rejection and T cell-mediated rejection in human kidney xenotransplants
PMID: 39317190
5
Minimally gene-edited GGTA1-knockout pig kidney can support long-term physiological function but experiences antibody-mediated rejection driven by non-α-gal epitope responses
PMID: 41233546
6
GGTA1/CMAH knockout reduces xenogeneic consumption of human platelets by porcine liver sinusoidal endothelial cells
PMID: 26906939
7
8-gene edited pigs including GGTA1 knockout reduce immune incompatibility and support kidney xenograft function but still develop antibody-mediated rejection
PMID: 40190036
Disease Associationsⓘ20
AnisometropiaOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.25Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Weak
Posterior polar cataractOpen Targets
0.10Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
cataractOpen Targets
0.08Suggestive
Anterior polar cataractOpen Targets
0.08Suggestive
pulverulent cataractOpen Targets
0.08Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.08Suggestive
isolated ectopia lentisOpen Targets
0.07Suggestive
cataract 35Open Targets
0.07Suggestive
cataract 13 with adult I phenotypeOpen Targets
0.07Suggestive
cataract 38Open Targets
0.07Suggestive
cataract 33Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GGTLC3Shared pathway50%GGT6Shared pathway50%GGTLC1Shared pathway50%GGTLC2Shared pathway50%GGT7Shared pathway25%GGT5Shared pathway14%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
13%
Brain
6%
Lung
3%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
GGTA1GGTLC3GGT6GGTLC1GGTLC2GGT7GGT5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q4G0N0
View on AlphaFold ↗
RankingsWhere GGTA1 stands among ~20K protein-coding genes
  • #16,764of 20,598
    Most Researched11
Genes detectedGGTA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pig-to-human kidney xenotransplants using genetically modified minipigs.
PMID: 39317190
Cell Rep Med · 2024
1.00
2
Production and Functional Verification of 8-Gene (GGTA1, CMAH, β4GalNT2, hCD46, hCD55, hCD59, hTBM, hCD39)-Edited Donor Pigs for Xenotransplantation.
PMID: 40190036
Cell Prolif · 2025
0.90
3
Physiology and immunology of a pig-to-human decedent kidney xenotransplant.
PMID: 41233546
Nature · 2026
0.80
4
Production of Triple-Gene (GGTA1, B2M and CIITA)-Modified Donor Pigs for Xenotransplantation.
PMID: 35573408
Front Vet Sci · 2022
0.70
5
Evaluation of human and non-human primate antibody binding to pig cells lacking GGTA1/CMAH/β4GalNT2 genes.
PMID: 25728481
Xenotransplantation · 2015
0.60