GENE NAME | MYO18B |
CHROMOSOME | 22 |
ENSEMBL ID | ENSG00000133454 |
ENTREZ ID | 84700 |
UNIPROT ACCESSION NUMBER | Q8IUG5 |
GO MOLECULAR FUNCTION | ATP binding; cytoskeletal motor activity; actin binding; nucleotide binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
4 combinations linked to MYO18B | OLI341; OLI790; OLI337; OLI342 |
5 variants linked to MYO18B | MYO18B:c.2695+3A>G, ; MYO18B:c.662T>C, p.Leu221Pro; MYO18B:c.5020G>A, p.Gly1674Arg; MYO18B:c.2879C>T, p.Ala960Val; MYO18B:c.3397C>T, p.Arg1133Trp |
2 diseases linked to MYO18B | Isolated Klippel-Feil syndrome; Arthrogryposis syndrome |