Disease-gene associations mined from literature

Literature associating HEATR2 and primary ciliary dyskinesia 1

HEATR2 [ENSP00000297440]

Dynein assembly factor 5, axonemal; Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

Synonyms:  HEATR2,  HEATR2p,  hHEATR2,  DNAAF5,  E9PGY2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM