Boll - Function

Function

This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2 / M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.

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