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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
SAA1 - Serum Amyloid A1
Alias:
SAA
PIG4
SAA2
TP53I4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码血清淀粉样A家族成员,该家族是载脂蛋白。编码的前原原蛋白在蛋白水解过程中被加工成成熟蛋白。这种蛋白质是急性期主要蛋白质,在炎症和组织损伤反应中高度表达。该蛋白质在HDL代谢和胆固醇平衡中也起着重要作用。高水平的该蛋白质与慢性炎症性疾病有关,包括动脉粥样硬化、类风湿性关节炎、阿尔茨海默病和克罗恩病。该蛋白质也可能成为某些肿瘤的潜在生物标志物。最后,成熟蛋白质的N-末端部分具有抗金黄色葡萄球菌和大肠杆菌的抗菌活性。交替剪接产生多个编码相同蛋白质的转录变异体。该基因的假基因位于染色体11上。[RefSeq,2020年7月提供]
Related ID:
NCBI:6288
ENSEMBL:ENSG00000173432
HGNC:10513
UNIPROT:P0DJI8
OMIM:104750
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6288
3
4
3704 bp
13.55
17
1
7
24
SAA1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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