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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
PCSK1N - Proprotein Convertase Subtilisin/kexin Type 1 Inhibitor
Alias:
PEN
SAAS
SCG8
BigLEN
SgVIII
PROSAAS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质作为前激素转换酶1的抑制剂发挥作用,调节神经内分泌肽前体的蛋白水解切割。前蛋白进一步加工成多个短肽。这个基因内的多态性可能与肥胖症有关。[RefSeq,2013年8月提供]
Related ID:
NCBI:27344
ENSEMBL:ENSG00000102109
HGNC:17301
UNIPROT:Q9UHG2
OMIM:300399
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27344
1
3
4515 bp
27.37
17
--
4
8
PCSK1N 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
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Alphabetical
Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
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