DAZL Chromosome 3

Deleted in azoospermia like
3 variants 3 Health Risk

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What This Gene Does
The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"RNA binding motif containing|DAZ RNA binding protein family "
Locus Type
gene with protein product
Location
3p24.3
Ensembl
ENSG00000092345
Associated Conditions (1)
Idiopathic male infertility
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2546477137 Health Risk association Idiopathic male infertility, Idiopathic male infertility, Idiopathic male infertility
RS2546477191 Health Risk Likely pathogenic Idiopathic male infertility, Idiopathic male infertility
RS2546477159 Health Risk Pathogenic Idiopathic male infertility, Idiopathic male infertility
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