DAZAP1 - DAZ associated protein 1 Gene

中文名称：DAZ 相关蛋白 1

种属: Homo sapiens

关于 DAZAP1

功能概要

在哺乳动物中，Y 染色体指导睾丸的发育，并在精子发生中发挥重要作用。很大比例的不育男性具有映射到 Y 染色体区域的缺失。 DAZ (在无精子症中缺失) 基因簇映射到 Y 染色体的 AZFc 区域，在许多无精子症和严重少精子症的男性中缺失。据认为，DAZ 基因簇起源于祖先常染色体基因 DAZL 的转座、扩增和修剪，该基因还参与生殖细胞发育和配子发生。该基因编码具有两个 RNP 基序的 RNA 结合蛋白，最初是通过其与不育因子 DAZ 和 DAZL 的相互作用来鉴定的。两种亚型由该基因的转录变体编码。[RefSeq 提供，2008 年 7 月]

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]