Disease-gene associations mined from literature

Literature associating DYNC1H1 and Charcot-Marie-Tooth disease X-linked recessive 2

DYNC1H1 [ENSP00000348965]

Dynein, cytoplasmic 1, heavy chain 1; Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression; Belongs to the dynein heavy chain family.

Synonyms:  DYNC1H1,  DYNC1H1p,  hDYNC1H1,  B4DSR6,  DNCHC1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM