DISEASES

Disease-gene associations mined from literature

Literature associating DNAAF2 and inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

DNAAF2 [ENSP00000298292]

Protein kintoun; Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment. ; Belongs to the PIH1 family. Kintoun subfamily.

Synonyms:  DNAAF2,  DNAAF2p,  hDNAAF2,  Q9NVR5,  Q9NVR5p ...

Linkouts:  STRING  Pharos  UniProt