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中文人类
SERPINA1 - Serpin Family A Member 1
Alias:
PI
A1A
AAT
PI1
A1AT
nNIF
PRO2275
alpha1AT
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这个基因编码的蛋白质是一种丝氨酸蛋白酶抑制剂，属于丝氨酸蛋白酶抑制剂超家族，其靶点包括弹性蛋白酶、血浆酶、凝血酶、胰蛋白酶、胰凝乳蛋白酶和血浆酶原激活剂。这种蛋白质在肝脏、骨髓、淋巴组织中的淋巴细胞和单核细胞以及肠道的潘氏细胞中产生。这个基因的缺陷与慢性阻塞性肺病、肺气肿和慢性肝病有关。已经发现这个基因有几个编码相同蛋白质的转录变异体。[RefSeq，2020年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SERPINA1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
