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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
SFTPA1 - Surfactant Protein A1
Alias:
SPA
ILD1
PSAP
PSPA
SP-A
SPA1
PSP-A
SFTP1
SP-A1
COLEC4
SFTPA1B
SP-A1 beta
SP-A1 delta
SP-A1 gamma
SP-A1 epsilon
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种肺表面活性蛋白,属于C型凝集素亚家族,称为收集素。编码的蛋白质结合特定的糖分子,这些糖分子存在于脂质和微生物表面。这种蛋白质在表面活性蛋白稳态和抵抗呼吸道病原体方面发挥重要作用。这个基因的突变与特发性肺纤维化有关。交替剪接导致多个转录变异体。[RefSeq,2010年5月提供]
Related ID:
NCBI:653509
ENSEMBL:ENSG00000122852
HGNC:10798
UNIPROT:Q8IWL2
OMIM:178630
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
653509
17
6
4517 bp
26.24
57
2
5
20
SFTPA1 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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