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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PBDC1
polysaccharide biosynthesis domain containing 1
Chromosome X Β· Xq13.3
NCBI Gene: 51260Ensembl: ENSG00000102390.12HGNC: HGNC:28790UniProt: A6NDF3
40PubMed Papers
14Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein folding chaperone'de novo' cotranslational protein foldinghypertensionresponse to xenobiotic stimulusfibroblastic disordervein disorder
✦AI Summary

PBDC1 (polysaccharide biosynthesis domain containing 1) is an X-linked gene with predicted roles in protein folding and chaperone function based on GO annotations for protein binding and de novo cotranslational protein folding. The primary known association with PBDC1 involves neurodevelopment; it resides within a 1.7 Mb deletion on chromosome X that segregates with autism spectrum disorder (ASD) in a multiplex family, though ZDHHC15 appears to be the primary candidate gene in this region 1. PBDC1 was identified as one of multiple genes deleted in three family members presenting with ASD and abnormal sensory profiles, with normal cognitive abilities. Limited functional characterization is available; PBDC1 has been detected as a protein showing altered expression in pancreatic beta-cells exposed to DDT toxicity 2, suggesting potential involvement in cellular stress responses, though this appears incidental to toxicology screening rather than reflective of primary gene function. The gene's precise molecular mechanism and clinical significance remain incompletely defined. Further research is needed to establish PBDC1's independent contribution to disease pathology versus its role as part of larger genomic deletions affecting neurodevelopment.

Sources cited
1
PBDC1 is located within a 1.7 Mb chromosome X deletion that segregates with autism spectrum disorder in a multiplex family
PMID: 36565021
2
PBDC1 expression is altered in pancreatic beta-cells exposed to DDT toxicity
PMID: 33104727
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜14
hypertensionOpen Targets
0.21Weak
response to xenobiotic stimulusOpen Targets
0.21Weak
fibroblastic disorderOpen Targets
0.03Suggestive
vein disorderOpen Targets
0.03Suggestive
lymphatic system diseaseOpen Targets
0.03Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
esophageal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TTLL12Protein interaction83%EEF1A1Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
56%
Liver
56%
Ovary
49%
Heart
43%
Brain
38%
Gene Interaction Network
Click a node to explore
PBDC1TTLL12EEF1A1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BVG4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.84Intermediate
Observed/Expected LoF0.25 [0.11–0.64]
RankingsWhere PBDC1 stands among ~20K protein-coding genes
  • #10,220of 20,598
    Most Researched40
  • #4,630of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedPBDC1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
ZDHHC15 as a candidate gene for autism spectrum disorder.
PMID: 36565021
Am J Med Genet A Β· 2023
1.00
2
Dendritic cells and vascular endothelial growth factor in colorectal cancer: correlations with clinicobiological findings.
PMID: 16015045
Oncology Β· 2005
0.67
3
Markers of acute toxicity of DDT exposure in pancreatic beta-cells determined by a proteomic approach.
PMID: 33104727
PLoS One Β· 2020
0.33