Disease-gene associations mined from literature

Literature associating DYNC1LI2 and Bardet-Biedl syndrome 7

DYNC1LI2 [ENSP00000258198]

Dynein, cytoplasmic 1, light 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. May play a role in binding dynein to membranous organelles or chromosomes; Belongs to the dynein light intermediate chain family.

Synonyms:  DYNC1LI2,  A0A024R6Z0,  B4E2E0,  H3BU48,  H3BUM4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM