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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
AMELX - Amelogenin X-linked
Alias:
AMG
AI1E
AIH1
ALGN
AMGL
AMGX
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于细胞外基质蛋白的amelogenin家族成员。Amelogenins参与牙齿釉质发育过程中的生物矿化。这个基因的突变导致X连锁牙本质发育异常。可变剪接产生了多种编码不同异质体的转录本变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:265
ENSEMBL:ENSG00000125363
HGNC:461
UNIPROT:Q99217
OMIM:300391
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
265
4
6
16176 bp
21.60
36
3
9
14
AMELX 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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