PLPBP Chromosome 8
Pyridoxal phosphate binding protein
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What This Gene Does
This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]
Associated Conditions (4)
Inborn genetic diseases
Epilepsy
early-onset
vitamin B6-dependent
Key Variants
RS1173063527
Conflicting classifications of pathogenicity
Health Risk
RS151283151
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200291280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201046156
Conflicting classifications of pathogenicity
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
RS367850837
Conflicting classifications of pathogenicity
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
RS777815255
Conflicting classifications of pathogenicity
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
RS903127278
Conflicting classifications of pathogenicity
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
RS942951418
Conflicting classifications of pathogenicity
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
RS1563326405
Likely pathogenic
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
RS2487372034
Likely pathogenic
Health Risk
RS770741304
Likely pathogenic
Health Risk
RS1057519273
Pathogenic
Epilepsy, early-onset, vitamin B6-dependent
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1173063527 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151283151 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200291280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201046156 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, vitamin B6-dependent |
| RS367850837 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, vitamin B6-dependent |
| RS777815255 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, vitamin B6-dependent |
| RS903127278 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, vitamin B6-dependent |
| RS942951418 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, vitamin B6-dependent |
| RS1563326405 | Health Risk | Likely pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS2487372034 | Health Risk | Likely pathogenic | — |
| RS770741304 | Health Risk | Likely pathogenic | — |
| RS1057519273 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS1057519424 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS1248896048 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS1323938116 | Health Risk | Pathogenic | — |
| RS201043042 | Health Risk | Pathogenic | — |
| RS2129775201 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS2487359201 | Health Risk | Pathogenic | — |
| RS2487359546 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2487359618 | Health Risk | Pathogenic | — |
| RS2487371953 | Health Risk | Pathogenic | — |
| RS2487372007 | Health Risk | Pathogenic | — |
| RS752753379 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS755595256 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS767795673 | Health Risk | Pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS755946598 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, early-onset, vitamin B6-dependent |
| RS760609867 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, early-onset, vitamin B6-dependent |