GENE NAME | PRRT2 |
CHROMOSOME | 16 |
ENSEMBL ID | ENSG00000167371 |
ENTREZ ID | 112476 |
UNIPROT ACCESSION NUMBER | Q7Z6L0 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
2 combinations linked to PRRT2 | OLI829; OLI330 |
2 variants linked to PRRT2 | PRRT2:c.640G>C, p.Ala214Pro; PRRT2:c.649dupC, p.Arg217ProfsTer8 |
2 diseases linked to PRRT2 | Benign familial infantile epilepsy; Amyotrophic lateral sclerosis |