GENE NAME | VAPB |
CHROMOSOME | 20 |
ENSEMBL ID | ENSG00000124164 |
ENTREZ ID | 9217 |
UNIPROT ACCESSION NUMBER | O95292 |
GO MOLECULAR FUNCTION | protein homodimerization activity; protein binding; enzyme binding; beta-tubulin binding; protein heterodimerization activity; microtubule binding; cadherin binding; FFAT motif binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1430728; hsa04979; R-HSA-428157; hsa04979; R-HSA-556833; hsa05022; hsa05014; hsa05014; hsa05022; R-HSA-1660661 |
6 combinations linked to VAPB | OLI967; OLI968; OLI970; OLI830; OLI274; OLI279 |
7 variants linked to VAPB | VAPB:c.510G>A, p.Met170Ile; VAPB:p.Val234Ile; VAPB:c.*753C>G, ; VAPB:c.*6182C>T, ; VAPB:c.*1265G>C, ; VAPB:c.*2819A>G, ; VAPB:c.*4520T>C, |
1 disease linked to VAPB | Amyotrophic lateral sclerosis |