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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PGGHG
protein-glucosylgalactosylhydroxylysine glucosidase
Chromosome 11 · 11p15.5
NCBI Gene: 80162Ensembl: ENSG00000142102.17HGNC: HGNC:26210UniProt: A0A024R1Z9
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-glucosylgalactosylhydroxylysine glucosidase activitycarbohydrate metabolic processcytosolcatalytic activitycolorectal adenocarcinomapulmonary arterial hypertensionhepatocellular carcinomacutaneous lupus erythematosus
✦AI Summary

PGGHG (protein-glucosylgalactosylhydroxylysine glucosidase) is a GH65 family enzyme that catalyzes the hydrolysis of glucose from disaccharide units (Glc-α1,2-Gal) linked to hydroxylysine residues in collagen and collagen-like proteins 1. The enzyme is encoded by the ATHL1 gene and contains three critical carboxyl residues (Asp301, Glu430, and Glu574) essential for catalytic activity 1. Structurally, PGGHG features a distinctive flat surface adjacent to its active site that facilitates collagen approximation and substrate recognition, enabling high specificity toward its glucosaccharide substrate 2. This specialized architecture is unique among GH65 family enzymes and supports selective recognition of glycosylated hydroxylysines 2. PGGHG functions within collagen glycosylation, a post-translational modification occurring in the endoplasmic reticulum that influences collagen secretion and fibril alignment 3. Beyond its primary metabolic role, PGGHG has emerged as having disease relevance. Genome-wide association studies implicate PGGHG in ectopic pregnancy pathogenesis, with altered PGGHG expression identified in fallopian tube epithelium networks associated with aberrant embryo implantation 4. Additionally, PGGHG DNA methylation patterns correlate with Crohn's disease status and severity, suggesting involvement in intestinal immune function and inflammation 5. These findings indicate PGGHG may represent a therapeutic target for collagen metabolism-related diseases and reproductive pathology.

Sources cited
1
PGGHG is encoded by ATHL1 gene; cleaves glucose from disaccharide Glc-α1,2-Gal linked to hydroxylysine; three carboxyl residues (Asp301, Glu430, Glu574) are critical for catalytic activity
PMID: 26682924
2
PGGHG glucosidase is involved in collagen glycosylation; glycosylation influences collagen secretion and fibril alignment; glycosylation is associated with human diseases
PMID: 38611696
3
PGGHG belongs to GH65 family; has distinctive flat surface adjacent to active site unique among GH65 enzymes; flat surface facilitates collagen peptide contact and substrate recognition; shows high specificity for glucosaccharide substrate
PMID: 41605404
4
PGGHG is implicated in ectopic pregnancy through network analysis of fallopian tube epithelium; eQTLs from ectopic pregnancy GWAS map to PGGHG in tissue-specific networks
PMID: 41183511
5
PGGHG DNA methylation is significantly associated with Crohn's disease inflammation, disease severity indices (SES-CD and CDAI); PGGHG methylation correlates with immune-related alterations in intestinal mucosa
PMID: 41571701
Disease Associationsⓘ20
colorectal adenocarcinomaOpen Targets
0.02Suggestive
pulmonary arterial hypertensionOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
cutaneous lupus erythematosusOpen Targets
0.01Suggestive
papillary renal cell carcinomaOpen Targets
0.01Suggestive
chronic lymphocytic leukemiaOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
pancreatic carcinomaOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
Cornelia de Lange syndromeOpen Targets
0.00Suggestive
X-linked hyper-IgM syndromeOpen Targets
0.00Suggestive
FibroadenomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
in situ carcinomaOpen Targets
0.00Suggestive
multiple sclerosisOpen Targets
0.00Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen 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
Lung
100%
Liver
60%
Bone Marrow
24%
Heart
11%
Ovary
10%
Brain
1%
Gene Interaction Network
Click a node to explore
PGGHGABOAMY2BLCTSITPD52L2B4GALT3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q32M88
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.71–1.06]
RankingsWhere PGGHG stands among ~20K protein-coding genes
  • #16,534of 20,598
    Most Researched12
  • #10,714of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedPGGHG
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Glycosylation Modulates the Structure and Functions of Collagen: A Review.
PMID: 38611696
Molecules · 2024
1.00
2
Catalytic site of human protein-glucosylgalactosylhydroxylysine glucosidase: Three crucial carboxyl residues were determined by cloning and site-directed mutagenesis.
PMID: 26682924
Biochem Biophys Res Commun · 2016
0.80
3
Identification of novel differentiation trajectories and gene network associations with ectopic pregnancy in fallopian tube epithelium.
PMID: 41183511
Hum Reprod · 2025
0.60
4
Mucosal DNA methylation reveals immune-related methylation profile and correlates with crohn's disease status.
PMID: 41571701
Sci Rep · 2026
0.40
5
The structure of human glucosidase PGGHG reveals a very specific active site accessible through a flat surface for collagen approximation.
PMID: 41605404
Int J Biol Macromol · 2026
0.20