GENE NAME | ARHGEF28 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000214944 |
UNIPROT ACCESSION NUMBER | Q8N1W1 |
GO MOLECULAR FUNCTION | ['guanyl-nucleotide exchange factor activity', 'metal ion binding', 'RNA binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa05135; R-HSA-1266738; R-HSA-2682334; R-HSA-3928662; R-HSA-422475; R-HSA-9675108 |
5 combinations linked to ARHGEF28 | OLI1629; OLI1634; OLI1620; OLI1619; OLI328 |
5 variants linked to ARHGEF28 | ARHGEF28:c.743C>G, p.Thr248Arg; ARHGEF28:c.1915A>G, p.Thr639Ala; ARHGEF28:c.1969C>T, p.Pro657Ser; ARHGEF28:c.4645G>A, p.Glu1549Lys; ARHGEF28:c.1180G>T, p.Glu394Ter |
1 disease linked to ARHGEF28 | Amyotrophic lateral sclerosis |