基因注释 - DAZ1

📝 官方信息

官方名称：deleted in azoospermia 1

功能摘要：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 three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子

Tardbp 综合评分: 0.150 · 证据 1 条

🏥 关联疾病

该基因暂无关联疾病记录

🔗 外部数据库链接

NCBI Gene GenBank Ensembl GeneCards UniProt

🧬 基因注释：DAZ1