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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
PPFIA3 - PTPRF Interacting Protein Alpha 3
Alias:
LPNA3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是LAR蛋白酪氨酸磷酸酶相互作用蛋白(liprin)家族的一员。Liprins与LAR家族成员相互作用,LAR家族是跨膜蛋白酪氨酸磷酸酶,已知在轴突引导和对乳腺发育中起着重要作用。Liprin家族蛋白已经证明可以将磷酸酶LAR定位到细胞粘附斑,并可能涉及突触前活跃区的分子组织。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8541
ENSEMBL:ENSG00000177380
HGNC:9247
UNIPROT:O75145
OMIM:603144
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8541
4
30
31483 bp
133.50
37
--
6
11
PPFIA3 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
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Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
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Mutations
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Status
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Link
No data available
References Literature
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