DISEASES

Disease-gene associations mined from literature

Literature associating CLTC and cataract 8 multiple types

CLTC [ENSP00000479606]

Clathrin heavy chain 1; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans- Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension . Plays a role in early autophagosome formation . ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:20639872,

Synonyms:  CLTC,  A0A087WVQ6,  J3KRF5,  J3KS13,  J3KSQ2 ...

Linkouts:  STRING  Pharos  UniProt