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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
GCLM - Glutamate-cysteine Ligase Modifier Subunit
Alias:
GLCLR
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
谷胱甘肽合成酶,又名γ-谷氨酰半胱氨酸合成酶,是谷胱甘肽合成的第一限制酶。该酶由两个亚基组成,一个重的催化亚基和一个轻的调节亚基。γ-谷氨酰半胱氨酸合成酶缺乏症已被认为是某些形式的溶血性贫血的原因。替代剪接导致多种转录变体编码不同的等位基因。[由RefSeq提供,2015年4月]
Related ID:
NCBI:2730
ENSEMBL:ENSG00000023909
HGNC:4312
UNIPROT:P48507
OMIM:601176
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2730
4
7
24232 bp
30.73
4
1
4
6
GCLM 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
Alphabetical
Interactions
Reset
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
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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