DISEASES

Disease-gene associations mined from literature

Literature associating SPAG16 and pulmonary subvalvular stenosis

SPAG16 [ENSP00000332592]

Sperm-associated antigen 16 protein; Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By similarity).

Synonyms:  SPAG16,  SPAG16p,  hSPAG16,  A0A0A0MQX0,  A0A0C4DG20 ...

Linkouts:  STRING  Pharos  UniProt  OMIM