Disease-gene associations mined from literature

Literature associating RSPH3 and rigid spine muscular dystrophy 1

RSPH3 [ENSP00000252655]

Radial spoke 3 homolog (Chlamydomonas); Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia; Belongs to the flagellar radial spoke RSP3 family.

Synonyms:  RSPH3,  RSPH3p,  hRSPH3,  Q86UC2,  Q86UC2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM