| GENE NAME | CACNA1A |
| CHROMOSOME | 19 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000141837 |
| UNIPROT ACCESSION NUMBER | O00555 |
| GO MOLECULAR FUNCTION | ['amyloid-beta binding', 'syntaxin binding', 'high voltage-gated calcium channel activity', 'protein binding', 'metal ion binding', 'voltage-gated calcium channel activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04010; hsa04020; hsa04721; hsa04723; hsa04724; hsa04725; hsa04726; hsa04727; hsa04728; hsa04730; hsa04742; hsa04930; hsa05017; hsa05032; hsa05033; R-HSA-112308; R-HSA-112315; R-HSA-112316; R-HSA-1430728; R-HSA-163685; R-HSA-422356 |
| 2 combinations linked to CACNA1A | OLI1469; OLI1152 |
| 2 variants linked to CACNA1A | CACNA1A:c.4981C>T, p.Arg1661Cys; CACNA1A:c.6772C>A, p.His2258Asn |
| 2 diseases linked to CACNA1A | Rare pervasive developmental disorder; Hereditary spastic paraplegia |