DAZ4 Antibody – Rabbit Polyclonal

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]

DAZ4: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Defects in DAZ4 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2). It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility. Belongs to the RRM DAZ family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: Yq11.223

Cellular Component: cytoplasm; nucleus

Molecular Function: nucleotide binding; RNA binding

Biological Process: cell differentiation; multicellular organismal development; spermatogenesis

Disease: Spermatogenic Failure, Y-linked, 2