DAZ2 - deleted in azoospermia 2 Gene

中文名称：在无精子症中删除 2

种属: Homo sapiens

同用名: pDP1678

关于 DAZ2

功能概要

该基因是 DAZ 基因家族的成员，是人类 Y 染色体无精症因子 (AZF) 的候选基因。它的表达仅限于减数分裂前的生殖细胞，特别是在精原细胞中。它编码一种对精子发生很重要的 RNA 结合蛋白。在回文重复的 Y 染色体上发现了该基因的四个拷贝；一对基因是 P2 回文的一部分，第二对是 P1 回文的一部分。每个基因包含一个 2.4 kb 的重复序列，包括一个 72-bp 的外显子，称为 DAZ 重复序列； DAZ 重复的数量是可变的，并且 DAZ 重复的序列有多种变化。该基因的每个拷贝还包含一个 10.8 kb 的可扩增区域；该区域包括编码 RNA 识别基序 (RRM) 域的五个外显子。该基因包含一个 10.8 kb 重复序列的拷贝。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]