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 |