Details for Gene MYO18B

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; OLI337; OLI342; OLI790
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

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