| GENE NAME | GPHN |
| CHROMOSOME | 14 |
| ENSEMBL ID | ENSG00000171723 |
| ENTREZ ID | 10243 |
| UNIPROT ACCESSION NUMBER | Q9NQX3 |
| GO MOLECULAR FUNCTION | protein binding; transferase activity; nucleotide binding; molybdopterin adenylyltransferase activity; catalytic activity; molybdopterin molybdotransferase activity; metal ion binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1430728; hsa04727; hsa01100; hsa00790; R-HSA-947581; R-HSA-196849; R-HSA-196854; hsa01240 |
| 1 combination linked to GPHN | OLI559 |
| 1 variant linked to GPHN | GPHN:c.127G>A, p.Val43Ile |
| 2 diseases linked to GPHN | Juvenile myoclonic epilepsy; Generalized epilepsy with febrile seizures-plus |