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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
TGM3 - Transglutaminase 3
Alias:
TGE
UHS2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
转谷氨酰胺酶是一类通过epsilon-gamma谷氨酰赖氨酸异肽键催化蛋白质交联的酶。尽管转谷氨酰胺酶的初级结构不保守,但它们在活性部位都具有相同的氨基酸序列,且其活性依赖于钙离子。这个基因编码的蛋白质由两个多肽链组成,通过蛋白水解从单个前体蛋白激活。编码的蛋白质参与表皮和毛囊中细胞包膜形成的后期阶段。[RefSeq,2008年7月提供]
Related ID:
NCBI:7053
ENSEMBL:ENSG00000125780
HGNC:11779
UNIPROT:Q08188
OMIM:600238
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7053
1
13
45079 bp
76.63
40
2
14
10
TGM3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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