Molecular characteristics

The mutation spectrum includes frameshift, missense, nonsense, splice site, and an in-frame deletion. All variants have been found to be private to a family.

SCAPER was originally identified as S-phase Cyclin A-associated Protein in the Endoplasmic Reticulum, a protein involved in mitotic progression. Recently, it has been implied that SCAPER is a ciliary protein with a possible role in ciliary dynamics and disassembly, also affecting microtubule-related mitotic progression. Therefore, the phenotype induced by SCAPER mutations is actually a ciliopathy.