DISEASES

Disease-gene associations mined from literature

Literature associating DYNC1I2 and umbilical hernia

DYNC1I2 [ENSP00000380308]

Cytoplasmic dynein 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. Has a critical role in neurodevelopment .

Synonyms:  DYNC1I2,  DYNC1I2p,  hDYNC1I2,  A0A140VKE9,  E7EMU4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM