Deleted in Azoospermia-Like

Alternative Names

  • DAZL
  • DAZLA
  • Deleted in Azoospermia Homolog
  • DAZH
  • SPGYLA

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

601486

NCBI Gene ID

1618

Uniprot ID

Q92904

Length

18,632 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Deleted in azoospermia-like

Molecular Mass

33178 Da

Amino Acid Count

295

Genomic Location

chr3:16,586,792-16,605,423

Gene Map Locus
3p24.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001351.4:c.571-1G>CSaudi ArabiaNC_000003.12:g.16594584C>GLikely PathogenicSpermatogenic Failure 1NG_023329.1:g.15916G>C; NM_001351.4:c.571-1G>C1694568951
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