Details for Gene KIF7

GENE NAME KIF7
CHROMOSOME 15
ENSEMBL ID ENSG00000166813
ENTREZ ID 374654
UNIPROT ACCESSION NUMBER Q2M1P5
GO MOLECULAR FUNCTION protein binding; microtubule motor activity; ATP hydrolysis activity; ATP binding; nucleotide binding; microtubule binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05200; hsa05217; R-HSA-5632684; R-HSA-5358351; R-HSA-162582; R-HSA-5610787; hsa04340
3 combinations linked to KIF7 OLI245; OLI640; OLI832
3 variants linked to KIF7 KIF7:c.811delG, p.Glu271ArgfsTer51; KIF7:c.2675G>A, p.Arg892His; KIF7:c.653_662delCACGGTCTT, p.218-221del
2 diseases linked to KIF7 Joubert syndrome; Acrocallosal syndrome

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