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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
Galc - galactosylceramidase
Alias:
twi
Gacy
twitcher
2310068B06Rik
A930008M05Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码半乳糖基鞘脂酶,这是一种参与半乳糖基鞘脂降解的溶酶体羟化酶。这个基因的突变导致生长缓慢、颤抖和后腿无力,统称为“颤抖者”表型。在人类中,这个基因产物的缺乏导致一种称为克罗伊病(Krabbe disease)的溶酶体储存障碍。[由RefSeq,2014年12月提供]
Related ID:
NCBI:14420
ENSEMBL:ENSMUSG00000021003
UNIPROT:P54818
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14420
4
17
58023 bp
77.26
17
6
Galc Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
Strain of Origin
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No data available
References Literature
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IF
No Data Found!
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