DISEASES

Disease-gene associations mined from literature

Literature associating RSPH1 and Bardet-Biedl syndrome 5

RSPH1 [ENSP00000291536]

Male meiotic metaphase chromosome-associated acidic protein; May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.

Synonyms:  RSPH1,  RSPH1p,  hRSPH1,  A8MWV0,  Q8WYR4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM