Details for Gene CACNA1H

GENE NAME CACNA1H
CHROMOSOME 16
ENSEMBL ID None
ENTREZ ID ENSG00000196557
UNIPROT ACCESSION NUMBER O95180
GO MOLECULAR FUNCTION ['low voltage-gated calcium channel activity', 'voltage-gated ion channel activity', 'voltage-gated sodium channel activity', 'protein binding', 'metal ion binding', 'scaffold protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04010; hsa04020; hsa04713; hsa04925; hsa04927; hsa04929; hsa04934; R-HSA-1266738; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-9675108
8 combinations linked to CACNA1H OLI334; OLI958; OLI954; OLI1460; OLI332; OLI1468; OLI557; OLI330
8 variants linked to CACNA1H CACNA1H:c.2759C>T, p.Thr920Met; CACNA1H:c.4817C>T, p.Thr1606Met; CACNA1H:c.3691C>T, p.Arg1231Cys; CACNA1H:c.883C>G, p.Arg295Gly; CACNA1H:c.713T>G, p.Phe238Cys; CACNA1H:c.3043G>A, p.Val1015Met; CACNA1H:c.2907+1G>A, ; CACNA1H:c.1508G>A, p.Arg503His
4 diseases linked to CACNA1H Childhood absence epilepsy; Generalized epilepsy with febrile seizures-plus; Rare pervasive developmental disorder; Amyotrophic lateral sclerosis
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