| Entrez Gene ID | 11212 |
|---|---|
| Official Gene Symbol | PLPBP (GeneCards) |
| Full name | pyridoxal phosphate binding protein |
| Location | 8p11.23 |
| Other ids | Vega : OTTHUMG00000164024 MIM : 604436 HGNC : HGNC:9457 Ensembl : ENSG00000147471 |
| Other names | PROSC, EPVB6D |
| 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29313 | 11212 | PROSC | 8 | 37632819 | 37632819 | Autism Spectrum Disorders | PASM |
| 29815 | 11212 | PROSC | 8 | 37623828 | 37623828 | Autism Spectrum Disorders | PASM NextSeq500 |