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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
MSMO1 - Methylsterol Monooxygenase 1
Alias:
DESP4
ERG25
MCCPD
SC4MOL
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
胆固醇C4甲基氧化酶类似蛋白是根据其与酵母ERG25蛋白的相似性进行分离的。它含有一组与一组膜去饱和酶-羟化酶家族相似的拟金属结合基序。该蛋白定位在内质网膜上,被认为在胆固醇生物合成中发挥作用。已发现该基因的替代剪接转录变体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6307
ENSEMBL:ENSG00000052802
HGNC:10545
UNIPROT:Q15800
OMIM:607545
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6307
3
6
15496 bp
35.22
56
1
5
12
MSMO1 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
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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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