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中文人类
SOD1 - Superoxide Dismutase 1
Alias:
ALS
SOD
ALS1
IPOA
STAHP
hSod1
HEL-S-44
homodimer
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这个基因编码的蛋白质结合铜和锌离子，是负责在体内破坏自由超氧阴离子的两种异构酶之一。编码的异构酶是一种可溶性的细胞质蛋白质，作为同源二聚体将天然存在的但有害的超氧阴离子转化为分子氧和过氧化氢。另一种异构酶是线粒体蛋白质。此外，该蛋白质含有一种显示抗大肠杆菌、E. faecalis、金黄色葡萄球菌、金黄色葡萄球菌MRSA LPV+、无乳链球菌和酵母克鲁赛酵母抗性的抗菌肽。这个基因的突变被认为是不发性肌营养不良的病因。这个基因的罕见转录变异已经报道过。[RefSeq,2020年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SOD1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
