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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
GALC - Galactosylceramidase
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种溶酶体蛋白,可以水解半乳糖硫脂的半乳糖酯键,包括半乳糖基鞘脂、半乳糖基鞘醇、乳糖基鞘脂和单半乳糖基二酸酯。这个基因的突变与克雅病(球状细胞白血病)有关。不同的转录剪接变异体,编码不同的异构体已经被研究。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2581
ENSEMBL:ENSG00000054983
HGNC:4115
UNIPROT:P54803
OMIM:606890
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2581
11
17
60654 bp
77.06
1121
7
17
22
GALC 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
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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