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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
CSN2 - Casein Beta
Alias:
CASB
PDC213
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因是β-酪蛋白家族的成员。有两种类型的酪蛋白蛋白,β(由这个基因编码)和κ,它们都分泌在人乳中。β-酪蛋白是人乳中的主要蛋白质,是哺乳婴儿必需氨基酸的主要来源。β和κ酪蛋白蛋白共同形成球形胶束,它们结合其中的重要饮食矿物质,如钙和磷。此外,该蛋白质的C端14个氨基酸具有抗菌活性,尤其是在早产奶中,显示出对抗金黄色葡萄球菌和肠致病耶尔森菌的抗菌活性。可变剪接导致多个转录变异体。[由RefSeq,2020年7月提供]
Related ID:
NCBI:1447
ENSEMBL:ENSG00000135222
HGNC:2447
UNIPROT:P05814
OMIM:115460
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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1447
3
8
10473 bp
25.38
15
--
3
8
CSN2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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