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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
ACYP2 - Acylphosphatase 2
Alias:
ACYM
ACYP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
酰磷酸酶可以水解不同膜泵的磷酸酶中间物,尤其是来自骨骼肌肌浆网的Ca2+/Mg2+-ATPase。已经分离出两种同功酶,根据其组织定位被称为肌肉酰磷酸酶和红细胞酰磷酸酶。该基因编码肌肉型同构体(MT)。MT同构体的增加与肌肉分化有关。已经发现这个基因的几个转录变异体,编码不同的同构体。[RefSeq,2016年2月提供]
Related ID:
NCBI:98
ENSEMBL:ENSG00000170634
HGNC:180
UNIPROT:P14621
OMIM:102595
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
98
6
4
334188 bp
11.14
39
--
3
7
ACYP2 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
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Abundance
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Interactions
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Acting
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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
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Link
No data available
References Literature
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No Data Found!
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