DISEASES

Disease-gene associations mined from literature

Literature associating DNAH17 and blepharospasm

DNAH17 [ENSP00000374490]

Dynein heavy chain 17, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

Synonyms:  DNAH17,  DNAH17p,  hDNAH17,  K7ELN3,  Q9UFH2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM