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) |