DISEASES

Disease-gene associations mined from literature

Literature associating DYNC1I2 and umbilical hernia

DYNC1I2 [ENSP00000380308]

Dynein, cytoplasmic 1, intermediate chain 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150- glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes.

Synonyms:  DYNC1I2,  DYNC1I2p,  hDYNC1I2,  DNCI2,  DNCI2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM