Literature associating SPAG17 and autosomal recessive hypercholesterolemia
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 ...