Description
Product Characteristics:
Spermatogenesis represents the intricate developmental process of mitotic and meiotic cell divisions that ultimately leads to the production of haploid spermatozoa. BOULE, a member of the human deleted in azoospermia (DAZ) family, functions as a key conserved switch that regulates the progression of germ cells through meiosis in man. BOULE is an RNA-binding protein that regulates the expression of twine, a Cdc25 phosphatase, which promotes progression through meiosis. BOULE is expressed not only in the testis, but also in the nervous system, where it may play a role in neural communication. Mutations in the BOULE gene are be associated with male infertility, and the relative proportions of the three BOULE isoforms (B1, B2 and B3) may function as predictive markers for meiotic efficiency.
Subcellular location: Cytoplasm
Synonyms: Bol Drosophila boule homolog like, Bol, Bol boule like, Bol, boule like Drosophila, bol, boule-like Drosophila, Boll, BOLL_HUMAN, BOULE, Boule like, BOULE, Drosophila, homolog of, Protein boule like, Protein boule-like, Putative uncharacterized protein BOLL.
Target Information: 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. [provided by RefSeq, Jul 2008]