The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

CENP-F

CENP-F（centromere protein F）は、ヒトではCENPF遺伝子にコードされるタンパク質である. 細胞分裂時ののほか、繊毛形成のための微小管配向にも関与している.

متلازمة ستروم

CENPF

Centromere protein F is a protein that in humans is encoded by the CENPF gene. It is involved in chromosome segregation during cell division.

Strømme syndrome

Strømme syndrome is an extremely rare autosomal recessive genetic disorder which affects multiple systems of the body and presents as a ciliopathy.