PXDN Chromosome 2
Peroxidasin
Upload your DNA to see your personal genotypes for variants in PXDN.
What This Gene Does
This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
"I-set domain containing|Heme peroxidase family"
Locus Type
gene with protein product
Location
2p25.3
Ensembl
ENSG00000130508
Associated Conditions (6)
Anterior segment dysgenesis 7
Inborn genetic diseases
PXDN-related disorder
Anterior segment dysgenesis
Gastric cancer
Glaucoma 3A
Key Variants
RS151054868
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
RS185623598
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
RS200127189
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 7, Inborn genetic diseases, PXDN-related disorder
Health Risk
RS201592851
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 7, PXDN-related disorder, Anterior segment dysgenesis 7
Health Risk
RS775995985
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 7, PXDN-related disorder, Anterior segment dysgenesis 7
Health Risk
RS1558489563
Likely pathogenic
Anterior segment dysgenesis, Anterior segment dysgenesis
Health Risk
RS2546894117
Likely pathogenic
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
RS2546894138
Likely pathogenic
PXDN-related disorder, Gastric cancer, PXDN-related disorder
Health Risk
RS2546928153
Likely pathogenic
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
RS1316655042
Pathogenic
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
RS1387582423
Pathogenic
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
RS1408683917
Pathogenic
Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151054868 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS185623598 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS200127189 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 7, Inborn genetic diseases, PXDN-related disorder |
| RS201592851 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 7, PXDN-related disorder, Anterior segment dysgenesis 7 |
| RS775995985 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 7, PXDN-related disorder, Anterior segment dysgenesis 7 |
| RS1558489563 | Health Risk | Likely pathogenic | Anterior segment dysgenesis, Anterior segment dysgenesis |
| RS2546894117 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS2546894138 | Health Risk | Likely pathogenic | PXDN-related disorder, Gastric cancer, PXDN-related disorder |
| RS2546928153 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS1316655042 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS1387582423 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS1408683917 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS1572110097 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS1572153816 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS1683063437 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS200731840 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS2125411312 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS2125412042 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS2546894357 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS2546904328 | Health Risk | Pathogenic | Glaucoma 3A, Glaucoma 3A |
| RS369535598 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS558163499 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS587777572 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS587777573 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS748853041 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS756846388 | Health Risk | Pathogenic | Anterior segment dysgenesis 7, Anterior segment dysgenesis 7 |
| RS967959245 | Health Risk | Pathogenic | Anterior segment dysgenesis, Anterior segment dysgenesis 7, Anterior segment dysgenesis |