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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
APC - APC Regulator Of WNT Signaling Pathway
Alias:
GS
DP2
DP3
BTPS2
DESMD
DP2.5
PPP1R46
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种肿瘤抑制蛋白,作为Wnt信号通路拮抗剂发挥作用。它还涉及其他过程,包括细胞迁移和粘附、转录激活和凋亡。这个基因的缺陷导致家族性腺瘤性息肉病(FAP),这是一种常染色体显性恶性前疾病,通常进展为恶性肿瘤。APC基因的突变在大多数结直肠癌中发生,疾病相关的突变往往聚集在一个被称为突变簇区(MCR)的小区域内,并导致截断的蛋白质产物。[RefSeq,2022年6月提供]
Related ID:
NCBI:324
ENSEMBL:ENSG00000134982
HGNC:583
UNIPROT:P25054
OMIM:611731
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
324
35
16
138742 bp
311.65
13046
17
33
68
APC 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
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Interactions
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Acting
Regulation
Detail
Mechanism
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Residues
Reference
Score
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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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