Tubulin beta-8 (TUBB8)

TUBB8 is a beta-tubulin. It is not expressed in the brain but only found in oocytes (a female reproductive cell) and the very early embryo.

TUBB8 variants have not been identified to cause structural brain disorders. Consistent with its expression in oocytes however, TUBB8 variants have been linked to female infertility (Feng et al., 2016).

The authors identified seven variants, and demonstrated that these affected the correct function of TUBB8 protein in microtubules, causing a critical stage of oocyte maturation to fail.