Disease-gene associations mined from literature

Literature associating SPAG17 and autosomal recessive hypercholesterolemia

SPAG17 [ENSP00000337804]

Projection protein PF6 homolog; Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts.

Synonyms:  SPAG17,  SPAG17p,  hSPAG17,  A7LBF9,  Q5TDG6 ...

Linkouts:  STRING  Pharos  UniProt