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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
Gnptab - N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Alias:
EG432486
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够激活UDP-N-乙酰葡萄糖胺-溶酶体酶N-乙酰葡萄糖胺磷酸转移酶活性。在碳水化合物磷酸化和溶酶酶分泌的上游或内部起作用。预测位于高尔基体膜上。预测在高尔基体中活性。用于研究粘脂病II型α/β的研究。这个基因的人类同源物与粘脂病II型α/β和粘脂病III型α/β有关。与人类的GNPTAB(N-乙酰葡萄糖胺-1-磷酸转移酶亚基α和β)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:432486
ENSEMBL:ENSMUSG00000035311
UNIPROT:Q69ZN6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
432486
6
21
68191 bp
140.98
11
4
Gnptab Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Acting
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Type
Name
MGI
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