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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
MAGT1 - Magnesium Transporter 1
Alias:
IAP
XMEN
MRX95
OST3B
CDG1CC
PRO0756
SLC58A1
bA217H1.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种广泛表达的镁离子转运蛋白,该蛋白定位在细胞膜上。这种蛋白还与N-寡糖基转移酶结合,因此可能在N-糖基化中发挥作用。这个基因的突变导致一种X-连锁智力障碍(XLID)。这个基因可能具有多个读框翻译起始位点,其中一个起始位点可以编码一个较短的蛋白,其N端含有位于氨基酸1-29处的信号肽。[由RefSeq提供,2017年7月]
Related ID:
NCBI:84061
ENSEMBL:ENSG00000102158
HGNC:28880
UNIPROT:Q9H0U3
OMIM:300715
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84061
2
10
69822 bp
38.04
178
3
8
20
MAGT1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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