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🧬 基因注释:RBMX

📝 官方信息

官方名称:RNA binding motif protein X-linked

功能摘要:This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodegenerative disease
(0.558)
severe X-linked intellectual disability, Gustavson type
(0.537)
syndromic X-linked intellectual disability Shashi type
(0.489)
X-linked intellectual disability, Shashi type
(0.462)
dengue disease
(0.370)
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🔗 外部数据库链接