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The DAZ (Deleted in Azoospermia) gene is a candidate for the human Y-chromosomal Azoospermia factor (AZF). Expression of DAZ is restricted to premeiotic germ cells particulary in spermatogonia. It is suggested that DAZ may function in the first stages of spermatogenesis or in maintaining germ cell population. DAZ is a member of the DAZ gene family. DAZ encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains.
Gene Name: | deleted in azoospermia 1 |
Family/Subfamily: | DAZ |
Synonyms: | DAZ1, Deleted in azoospermia, DAZ, Deleted in azoospermia 1, SPGY |
Target Sequences: | NM_004081 NP_004072.3 Q9NQZ3 |
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