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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
APC2 - APC Regulator Of WNT Signaling Pathway 2
Alias:
APCL
MRT74
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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这个基因编码一个保守性很强的蛋白质,其N端有螺旋-螺旋结构域,接着是臂盘虫结构域,五个20氨基酸重复序列,以及两个SAMP结构域。这个蛋白质促进一个多蛋白复合体的组装,该复合体招募并磷酸化Wnt效应子β-连环蛋白,并使其成为泛素化和蛋白酶体降解的靶点。因此,这个蛋白质在降低β-连环蛋白的细胞质水平中发挥作用,从而减少Wnt靶基因的激活,这些基因在多种人类癌症的病理学中起关键作用。这个基因编码的蛋白质与腺瘤性息肉病结肠(APC)肿瘤抑制蛋白有密切关系,并具有类似的肿瘤抑制效果。这个基因还通过与其细胞骨架蛋白相互作用,在肌动蛋白组装、细胞-细胞粘附和微管网络形成中发挥作用。这个基因在中枢神经系统中表达最高,并通过神经元中细胞骨架的调节参与大脑发育。可变剪接产生多个转录变异体,编码不同的异构体。[RefSeq,2017年5月提供]
Related ID:
NCBI:10297
ENSEMBL:ENSG00000115266
HGNC:24036
UNIPROT:O95996
OMIM:612034
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
10297
9
15
27015 bp
243.95
680
4
4
11
APC2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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