Details for Gene MAST4

GENE NAME MAST4
CHROMOSOME 5
ENSEMBL ID ENSG00000069020
ENTREZ ID 375449
UNIPROT ACCESSION NUMBER O15021
GO MOLECULAR FUNCTION transferase activity; kinase activity; protein serine/threonine kinase activity; ATP binding; magnesium ion binding; nucleotide binding; protein kinase activity; metal ion binding; protein serine kinase activity
ESSENTIAL IN MOUSE None
PATHWAYS
3 combinations linked to MAST4 OLI558; OLI557; OLI559
3 variants linked to MAST4 MAST4:c.3602C>G, p.Pro1201Arg; MAST4:c.4486G>A, p.Val1496Met; MAST4:c.1040C>T, p.Thr347Met
3 diseases linked to MAST4 Childhood absence epilepsy; Generalized epilepsy with febrile seizures-plus; Juvenile myoclonic epilepsy

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