CENPF is involved in for kinetochore–microtubule attachment and essential in chromosome segregation in cell division and in ciliogenesis and ciliary function. CENPF plays a fundamental role in organ formation during early embryonic development. It is specifically expressed in various tissues of the brain, the eye (cornea, retina, optic nerve, and lens), facial structures, as well as fore- and hindlimb, liver, lung, stomach, intestinal, and urinary tract and the reproductive system during embryonic development and also in the meiotic oocyte. Loss of function (i.e., haploinsufficiency) leads to anomalies in cell division processes, ciliogenesis, and ciliary function. Causal truncating as well as missense variants are described. No genotype-phenotype correlations to date.
Diagnostic testing can be provided by single gene sequencing or via Panel/Exome/Genome-sequencing.
CENPF