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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PDXDC1
pyridoxal dependent decarboxylase domain containing 1
Chromosome 16 · 16p13.11
NCBI Gene: 23042Ensembl: ENSG00000179889.21HGNC: HGNC:28995UniProt: B4DHL7
84PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cadherin bindingGolgi apparatuscarbon-carbon lyase activitypyridoxal phosphate bindingneuroinflammatory disorderobesityUterine leiomyomaresponse to xenobiotic stimulus
✦AI Summary

PDXDC1 (pyridoxal dependent decarboxylase domain containing 1) encodes a putative enzyme that may metabolize catecholamine neurotransmitters and appears to play significant roles in neurodevelopment and metabolic processes 1. The protein localizes to the Golgi apparatus and participates in cadherin binding interactions. Functionally, PDXDC1 modulates prepulse inhibition (PPI) of acoustic startle response, a schizophrenia endophenotype, with hippocampal expression levels inversely correlated with PPI performance across mouse strains 1. Experimental suppression of PDXDC1 in the hippocampus increased PPI by 70%, suggesting it may represent a potential therapeutic target for schizophrenia 1. The gene shows clinical relevance across multiple conditions: it is associated with ADHD risk during early brain development 2, contributes to metabolic syndrome and inflammatory marker networks 3, and serves as a biomarker for acute rejection in kidney transplantation 4. Additionally, PDXDC1 influences circulating phospho- and sphingolipid concentrations 5, and copy number variations affecting this gene at chromosome 16.11 are associated with cardiac left-right patterning defects and congenital heart disease 6. These diverse associations suggest PDXDC1 plays important roles in neurodevelopment, metabolism, and cardiovascular development.

Sources cited
1
PDXDC1 is a putative enzyme that may metabolize catecholamine neurotransmitters and modulates prepulse inhibition of acoustic startle
PMID: 28485732
2
PDXDC1 is associated with ADHD risk during early human brain development
PMID: 39510315
3
PDXDC1 shows pleiotropic associations with metabolic syndrome and inflammatory markers
PMID: 24981077
4
PDXDC1 serves as a biomarker for acute rejection in kidney transplantation
PMID: 32550916
5
PDXDC1 is associated with circulating phospho- and sphingolipid concentrations
PMID: 22359512
6
Copy number variations affecting PDXDC1 at 16p13.11 are associated with cardiac left-right patterning defects and congenital heart disease
PMID: 39315310
Disease Associationsⓘ20
neuroinflammatory disorderOpen Targets
0.33Weak
obesityOpen Targets
0.26Weak
Uterine leiomyomaOpen Targets
0.16Weak
hypertensionOpen Targets
0.13Weak
response to xenobiotic stimulusOpen Targets
0.13Weak
metabolic syndromeOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
placenta praeviaOpen Targets
0.11Weak
uterine fibroidOpen Targets
0.10Weak
morbid obesityOpen Targets
0.08Suggestive
nerve plexus diseaseOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
diverticular diseaseOpen Targets
0.05Suggestive
schizophreniaOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
intelligenceOpen Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
testicular agenesisOpen Targets
0.03Suggestive
brain cancerOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GADL1Shared pathway100%CSADShared pathway100%BFARProtein interaction92%NOMO1Protein interaction81%NTAN1Protein interaction72%RRN3Protein interaction71%
Tissue Expression6 tissues
Liver
100%
Heart
43%
Bone Marrow
39%
Lung
37%
Ovary
32%
Brain
30%
Gene Interaction Network
Click a node to explore
PDXDC1GADL1CSADBFARNOMO1NTAN1RRN3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6P996
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.48 [0.36–0.63]
RankingsWhere PDXDC1 stands among ~20K protein-coding genes
  • #5,687of 20,598
    Most Researched84
  • #4,503of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedPDXDC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 39315310
Front Genet · 2024
1.00
2
Long non-coding RNA in coronary artery disease: the role of PDXDC1-AS1 and SFI1-AS1.
PMID: 37394483
Funct Integr Genomics · 2023
0.90
3
Genotype-based gene signature of glioma risk.
PMID: 28339748
Neuro Oncol · 2017
0.80
4
Pleiotropic genes for metabolic syndrome and inflammation.
PMID: 24981077
Mol Genet Metab · 2014
0.70
5
An age-independent gene signature for monitoring acute rejection in kidney transplantation.
PMID: 32550916
Theranostics · 2020
0.60