Disease-gene associations mined from literature

Literature associating RSPH4A and primary ciliary dyskinesia 1

RSPH4A [ENSP00000229554]

Radial spoke head 4 homolog A (Chlamydomonas); Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.

Synonyms:  RSPH4A,  RSPH4Ap,  hRSPH4A,  Q5TD94,  Q5TD94p ...

Linkouts:  STRING  Pharos  UniProt