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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
NAPA - NSF Attachment Protein Alpha
Alias:
SNAPA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码可溶性NSF附着蛋白(SNAP)家族的一员。SNAP蛋白在囊泡与目标膜的对接和融合中扮演关键角色,作为20S NSF-SNAP-SNARE复合体的一部分。编码的蛋白质在通过调节N-乙基马来酰亚胺敏感因子(NSF)与囊泡相关和膜相关SNAP受体(SNARE)复合体的相互作用以及刺激NSF的ATP酶活性中,在膜融合的完成中发挥作用。已经观察到了这个基因的可变剪接转录变异体。[RefSeq提供,2011年6月]
Related ID:
NCBI:8775
ENSEMBL:ENSG00000105402
HGNC:7641
UNIPROT:P54920
OMIM:603215
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8775
2
11
30534 bp
33.23
11
--
4
10
NAPA 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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