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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
Enpp1 - ectonucleotide pyrophosphatase/phosphodiesterase 1
Alias:
Pca
ttw
twy
M6S1
NPP1
Npps
PC-1
Ly-41
Pca-1
Pdnp1
CD203c
E-NPP1
E-NPP 1
4833416E15Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码核苷酸焦磷酸酶/磷酸二酯酶家族的一员,分别催化核苷酸三磷酸和寡核苷酸中的焦磷酸和磷酸二酯键的水解,生成核苷5'-单磷酸。编码的蛋白质是II型跨膜糖蛋白,负调控骨矿化。携带这个基因的无义突变的小鼠,被称为ttw小鼠,表现出脊柱韧带异常骨化。编码的蛋白质与胰岛素受体结合,抑制下游信号事件,诱导胰岛素抵抗和葡萄糖耐受。这个基因位于染色体10上的一个旁系同源基因附近。可变剪接产生多个转录变异体,编码不同的异构体。[由RefSeq,2015年4月提供]
Related ID:
NCBI:18605
ENSEMBL:ENSMUSG00000037370
UNIPROT:P06802
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18605
5
25
74246 bp
103.18
11
29
Enpp1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
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