| Gene Symbol | PLPBP |
| Entrez Gene ID | 11212 |
| Full Name | pyridoxal phosphate binding protein |
| Synonyms | EPVB6D,PROSC |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Epilepsy, early-onset, vitamin B6-dependent, 617290 (3) |
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