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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
SERPINF1 - Serpin Family F Member 1
Alias:
OI6
OI12
PEDF
EPC-1
PIG35
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸蛋白酶抑制因子家族的一员,不具有其他丝氨酸蛋白酶抑制因子蛋白所展示的丝氨酸蛋白酶抑制活性。编码的蛋白是分泌型的,并强烈抑制血管生成。此外,这种蛋白是一种神经营养因子,参与视网膜母细胞瘤细胞中神经元的分化。在这个基因中发现的突变与个体中的成骨不全,第六型有关。[RefSeq,2016年8月提供]
Related ID:
NCBI:5176
ENSEMBL:ENSG00000132386
HGNC:8824
UNIPROT:P36955
OMIM:172860
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5176
4
8
15506 bp
46.31
304
4
9
22
SERPINF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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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Interactions
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Type
Name
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Mutations
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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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