DAZL deleted in azoospermia like
Gene ID: 1618, updated on 17-Sep-2024Gene type: protein coding
Also known as: DAZH; DAZL1; DAZLA; SPGYLA
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- Go to complete Gene record for DAZL
- Go to Variation Viewer for DAZL variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
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Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. GeneReviews: Not available |
Genomic context
- Location:
- 3p24.3
- Sequence:
- Chromosome: 3; NC_000003.12 (16586792..16605423, complement)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for DAZL variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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