Details for Gene DYNC2H1

GENE NAME DYNC2H1
CHROMOSOME 11
ENSEMBL ID ENSG00000187240
ENTREZ ID 79659
UNIPROT ACCESSION NUMBER Q8NCM8
GO MOLECULAR FUNCTION dynein intermediate chain binding; ATP binding; nucleotide binding; dynein light intermediate chain binding; minus-end-directed microtubule motor activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05132; hsa04962; R-HSA-5620924; hsa04145; R-HSA-5358351; R-HSA-162582; R-HSA-5610787; R-HSA-5617833; R-HSA-1852241
1 combination linked to DYNC2H1 OLI458
1 variant linked to DYNC2H1 DYNC2H1:c.11747G>A, p.Gly3916Asp
1 disease linked to DYNC2H1 Short rib-polydactyly syndrome

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