DAZ3

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. [provided by RefSeq, Jul 2008]

Description

Deleted in azoospermia 3

Tissue specificity

Tissue enhanced (testis)

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

Y (24763069 - 24813492)

Ensembl ID

ENSG00000187191  (ver. 103.38)

Orthologs

-

UniProt

Q9NR90

neXtProt

NX_Q9NR90

Human splice variants

Protein structure