DAZ4

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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]

Description

Deleted in azoospermia 4

Tissue specificity

Group enriched (stomach , testis)

Predicted location

Intracellular

Protein family

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

Chromosome

Y (24833843 - 24907040)

Ensembl ID

ENSG00000205916  (ver. 103.38)

Orthologs

-

UniProt

Q86SG3

neXtProt

NX_Q86SG3

Human splice variants

Protein structure