DAZ3A gene on chromosome Yq11.223 that encodes an RNA-binding protein expressed only in premeiotic germ cells, especially in spermatogonia, which plays an essential role in spermatogenesis, possibly by binding to the 3’-UTR of mRNAs and regulating their translation. DAZ3 promotes germ cell progression to meiosis and formation of haploid germ cells and is a candidate for Y-chromosomal azoospermia factor. It forms a heterodimer with BOLL and DAZL, and interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
Defects in DAZ3 cause spermatogenic failure Y-linked type 2.
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