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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
小鼠
Ebp - phenylalkylamine Ca2+ antagonist (emopamil) binding protein
Alias:
SI
Td
mSI
Pabp
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个定位内质网的跨膜蛋白。这个蛋白催化delta8到delta7固醇的转化,这是固醇生物合成中的重要步骤。这个基因的突变导致小鼠破碎突变体表型。破碎雄性是胚胎致命的,而杂合雌性有发育缺陷。人类相关基因的缺陷导致X连锁显性点状软骨发育异常。[RefSeq提供,2015年5月]
Related ID:
NCBI:13595
ENSEMBL:ENSMUSG00000031168
UNIPROT:P70245
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13595
1
5
8184 bp
26.21
4
5
Ebp Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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