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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
DAZL - Deleted In Azoospermia Like
Alias:
DAZH
DAZL1
DAZLA
SPGYLA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
DAZ (无精子症中删除的)基因家族编码在男女产前和产后生殖细胞中表达的潜在RNA结合蛋白。此基因编码的蛋白质定位在胎儿生殖细胞的细胞核和细胞质中,以及发育中的卵母细胞的细胞质中。在睾丸中,该蛋白质定位在精原细胞的细胞核中,但在减数分裂期间转移到细胞质中,并在精子和精虫中持续存在。在灵长类动物进化过程中,这个常染色体基因的转换和扩增导致了Y染色体上的DAZ基因簇的出现。该基因的突变与男性严重的生精失败和不育有关。已发现该基因的两个转录变异体,编码不同的异构体。[由RefSeq,2010年6月提供]
Related ID:
NCBI:1618
ENSEMBL:ENSG00000092345
HGNC:2685
UNIPROT:Q92904
OMIM:601486
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1618
2
11
18632 bp
33.18
20
--
10
14
DAZL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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