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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
CPB2 - Carboxypeptidase B2
Alias:
CPU
PCPB
TAFI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
羧肽酶是一种水解C端肽键的酶。羧肽酶家族包括金属羧肽酶、丝氨酸羧肽酶和半胱氨酸羧肽酶。根据其底物特异性,这些酶被称为羧肽酶A(切割脂族残基)或羧肽酶B(切割碱性氨基酸残基)。该基因编码的蛋白质被胰蛋白酶激活,并对羧肽酶B底物起作用。在凝血酶激活后,成熟蛋白质下调纤维蛋白溶解。该基因及其启动子区域的多态性已有描述。交替剪接导致多个转录变异体。[RefSeq,2013年6月提供]
Related ID:
NCBI:1361
ENSEMBL:ENSG00000080618
HGNC:2300
UNIPROT:Q96IY4
OMIM:603101
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1361
3
11
51848 bp
48.42
10
--
8
11
CPB2 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
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Interactions
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Type
Name
MGI
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
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IF
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