DISEASES

Disease-gene associations mined from literature

Literature associating DYNC1I1 and split hand-foot malformation 4

DYNC1I1 [ENSP00000320130]

Dynein, cytoplasmic 1, intermediate chain 1; 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. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores.

Synonyms:  DYNC1I1,  DYNC1I1p,  hDYNC1I1,  A4D1I7,  C9J3E7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM