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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
BOLL - Boule Homolog, RNA Binding Protein
Alias:
BOULE
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于对生殖细胞发育必需的DAZ基因家族。它编码一个与果蝇Boule更相似的RNA结合蛋白,而不是由AZO(无精子症)或DAZL(类似无精子症)基因编码的人类蛋白质。这个基因功能的丧失导致精液中精子的缺失(无精子症)。组织学研究表明,主要缺陷是在减数G2/M过渡阶段。已经发现这个基因有两个可变剪接的转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:66037
ENSEMBL:ENSG00000152430
HGNC:14273
UNIPROT:Q8N9W6
OMIM:606165
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
66037
12
11
59317 bp
31.30
9
--
2
5
BOLL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
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
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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PMID
Journal
Year
IF
No Data Found!
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