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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
XPNPEP2 - X-prolyl Aminopeptidase 2
Alias:
APP2
AEACEI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
氨基肽酶P是一种特异性水解N端亚氨基键的酶,这种键常见于几种胶原降解产物、神经肽、血管活性肽和细胞因子。从结构上看,该酶属于“披萨面包折叠”家族的成员,并在哺乳动物组织中以可溶性和GPI锚定的膜结合形式存在。已发现这种酶的膜结合和可溶性形式是两种独立基因的产物[由RefSeq,2008年7月提供]。
Related ID:
NCBI:7512
ENSEMBL:ENSG00000122121
HGNC:12823
UNIPROT:O43895
OMIM:300145
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7512
1
21
30558 bp
75.62
38
1
2
7
XPNPEP2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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