Details for Gene PRRT2

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 OLI330; OLI829
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

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