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DAZ3

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DAZ3
Identifiers
AliasesDAZ3, pDP1679, deleted in azoospermia 3
External IDsOMIM: 400027; HomoloGene: 133282; GeneCards: DAZ3; OMA:DAZ3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020364

n/a

RefSeq (protein)

NP_065097

n/a

Location (UCSC)Chr Y: 24.76 – 24.81 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.[3][4]

This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It 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 one copy of the 10.8 kb repeat.[4]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187191Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Sep 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
  4. ^ a b "Entrez Gene: DAZ3 deleted in azoospermia 3".

Further reading

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