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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
ACP1 - Acid Phosphatase 1
Alias:
HAAP
LMWPTP
LMW-PTP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物属于蛋白质的磷酸酪氨酸磷酸酶家族。它通过水解蛋白质酪氨酸磷酸酯成为蛋白质酪氨酸和正磷酸酯,起到酸磷酸酶和蛋白质酪氨酸磷酸酶的作用。这个酶还可以水解正磷酸单酯成为醇和正磷酸酯。这个基因在遗传上是多态的,在相应位点分离的三个常见等位基因产生了六个表型。每个等位基因似乎编码至少两种电泳上不同的同工酶,Bf和Bs,它们以等位基因特异性的比例产生。已经在这个基因中识别出编码不同异构体的多种可变剪接转录本变异体。[由RefSeq,2008年8月提供]
Related ID:
NCBI:52
ENSEMBL:ENSG00000143727
HGNC:122
UNIPROT:P24666
OMIM:171500
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
52
3
6
13337 bp
18.04
12
--
6
19
ACP1 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
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Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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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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