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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
小鼠
Tpp1 - tripeptidyl peptidase I
Alias:
Cln2
LPIC
TPP-1
TPP-I
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种溶酶体的丝氨酸蛋白酶,能够从蛋白质底物中切割N-末端的三肽。编码的预前蛋白经历自催化加工,生成成熟的酶。缺乏编码蛋白的小鼠表现出进行性的神经退化和显著缩短的寿命。在细胞水平上,缺乏编码蛋白的小鼠表现出自荧光脂质色素积累。这个基因的人类同源基因的突变导致典型的晚婴儿期神经鞘脂黄病。[RefSeq, Nov 2015提供]
Related ID:
NCBI:12751
ENSEMBL:ENSMUSG00000030894
UNIPROT:O89023
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12751
2
13
7472 bp
61.34
8
8
Tpp1 Genetics information (-)
GRCm39
Sequence Homology
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
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Cell-specific RNA expression
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Type
Name
MGI
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References Literature
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IF
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