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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
MOCS1 - Molybdenum Cofactor Synthesis 1
Alias:
MIG11
MOCOD
MOCS1A
MOCS1B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钼辅因子生物合成是一个保守的途径,用于激活钼的生物学活性。这个基因编码的蛋白质涉及这个途径。最初认为这个基因产生一个双顺反子mRNA,具有通过相邻开放阅读框产生两种蛋白质(MOCS1A和MOCS1B)的潜力。然而,只有第一个开放阅读框(MOCS1A)已被发现可以编码推测的双顺反子mRNA的蛋白质,而其他剪接变异体可能产生两个开放阅读框之间的融合。这个基因在钼辅因子缺乏症A型患者中是有缺陷的。一个相关的假基因已经在染色体16上被鉴定。[RefSeq提供,2017年11月]
Related ID:
NCBI:4337
ENSEMBL:ENSG00000124615
HGNC:7190
UNIPROT:Q9NZB8
OMIM:603707
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4337
8
11
30293 bp
70.11
587
1
3
15
MOCS1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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