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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
DAZ1 - Deleted In Azoospermia 1
Alias:
DAZ
SPGY
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是DAZ基因家族的成员,被认为是人类Y染色体无精子症因子(AZF)的候选基因。其表达仅限于前减数分裂的生殖细胞,特别是在精母细胞中。它编码一种对精子发生重要的RNA结合蛋白。在染色体Y上,这个基因的四份拷贝位于回文重复中;一对基因是P2回文重复的一部分,另一对基因是P1回文重复的一部分。每个基因包含一个2.4kb的重复,包括一个被称为DAZ重复的72bp外显子;DAZ重复序列的数量是可变的,DAZ重复序列的序列有几个变异。每个基因拷贝还包含一个可能被扩增的10.8kb的区域;该区域包括五个编码RNA识别基序(RRM)结构域的外显子。这个基因包含三个10.8kb重复的拷贝。然而,没有描述含有三个RRM结构域拷贝的转录本;因此,这个基因的RefSeq只包含两个RRM结构域。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1617
ENSEMBL:ENSG00000188120
HGNC:2682
UNIPROT:Q9NQZ3
OMIM:400003
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1617
2
28
69740 bp
82.76
--
2
10
16
DAZ1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
* This data comes from NCBI.
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