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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GLT6D1
glycosyltransferase 6 domain containing 1
Chromosome 9 · 9q34.3
NCBI Gene: 360203Ensembl: ENSG00000204007.9HGNC: HGNC:23671UniProt: Q7Z4J2
13PubMed Papers
15Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glycosyltransferase activityGolgi apparatusvesiclehexosyltransferase activityperiodontitisneuroinflammatory disorderpericarditisoptic atrophy
✦AI Summary

GLT6D1 (glycosyltransferase 6 domain containing 1) is a Golgi apparatus-localized glycosyltransferase involved in glycan synthesis 1. While the protein's primary enzymatic function remains incompletely characterized, GLT6D1 has emerged as a candidate susceptibility locus for aggressive periodontitis through genome-wide association studies 2. The rs1537415 SNP in GLT6D1 shows association with aggressive periodontitis in African populations, with replication in Sudanese cohorts (OR=1.56, p=0.0042) 3, though associations vary across populations 4. GLT6D1 has been identified as a potential phenotype-modifying factor in cathepsin C-related periodontitis syndromes through its interaction with cathepsin protein function 5. Additionally, GLT6D1 represents a candidate gene in milk oligosaccharide synthesis, suggesting roles in glycan biosynthesis 1. Notably, CRISPR/Cas9-generated GLT6D1 knockout mice are male fertile with no reproductive defects, indicating the gene is dispensable for male fecundity despite testis abundance 6. Overall, GLT6D1 functions in glycosylation pathways with potential disease relevance in periodontitis susceptibility, though specific molecular mechanisms require further investigation.

Sources cited
1
GLT6D1 identified as candidate glycosyltransferase gene for milk oligosaccharide synthesis; confirmed Golgi-localized glycosyltransferase function
PMID: 31117955
2
GLT6D1 reported as conclusive susceptibility risk locus for periodontitis identified through GWAS
PMID: 24528298
3
rs1537415 SNP in GLT6D1 significantly associated with aggressive periodontitis in Sudanese population (OR=1.56, p=0.0042)
PMID: 25682733
4
GLT6D1 rs1537415 polymorphism evaluated in Brazilian periodontitis cohort with variable associations across populations
PMID: 35703703
5
GLT6D1 identified as putative phenotype-modifying factor influencing cathepsin protein function in periodontitis syndromes
PMID: 31925812
6
GLT6D1 knockout mice are male fertile with no reproductive organ defects; gene dispensable for male fecundity
PMID: 32561905
7
Predicted deleterious GLT6D1 mutations identified in families with severe early-onset periodontitis
PMID: 34515563
Disease Associationsⓘ15
periodontitisOpen Targets
0.27Weak
neuroinflammatory disorderOpen Targets
0.26Weak
pericarditisOpen Targets
0.26Weak
optic atrophyOpen Targets
0.26Weak
Peyronie diseaseOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.24Weak
Parkinson diseaseOpen Targets
0.24Weak
drug allergyOpen Targets
0.22Weak
chronic periodontitisOpen Targets
0.01Suggestive
aggressive periodontitisOpen Targets
0.00Suggestive
periodontal disorderOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABOShared pathway100%AMY2BShared pathway100%LCTShared pathway100%SIShared pathway100%TPD52L2Shared pathway100%B4GALT3Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
100%
Heart
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
GLT6D1ABOAMY2BLCTSITPD52L2B4GALT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z4J2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.15Tolerant
Observed/Expected LoF0.54 [0.24–1.36]
RankingsWhere GLT6D1 stands among ~20K protein-coding genes
  • #16,172of 20,598
    Most Researched13
  • #14,227of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedGLT6D1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian patients with advanced periodontitis.
PMID: 35703703
Braz Oral Res · 2022
1.00
2
CRISPR/Cas9-mediated genome-edited mice reveal 10 testis-enriched genes are dispensable for male fecundity.
PMID: 32561905
Biol Reprod · 2020
0.90
3
Genetic polymorphisms and periodontal disease in populations of African descent: A review.
PMID: 29105764
J Periodontal Res · 2018
0.80
4
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.
PMID: 34515563
J Dent Res · 2022
0.70
5
Moving into a new era of periodontal genetic studies: relevance of large case-control samples using severe phenotypes for genome-wide association studies.
PMID: 24528298
J Periodontal Res · 2014
0.60