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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
PCCA - Propionyl-CoA Carboxylase Subunit Alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是异源二聚体线粒体酶丙酰辅酶A羧化酶的α亚基。PCCA编码该酶的生物素结合区域。PCCA或PCCB(编码β亚基)中的突变导致酶缺陷,导致丙酸血症。已发现此基因有不同的转录变异体,编码不同的异构体。[RefSeq提供,2010年5月]
Related ID:
NCBI:5095
ENSEMBL:ENSG00000175198
HGNC:8653
UNIPROT:P05165
OMIM:232000
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5095
30
24
441343 bp
80.06
1077
1
5
21
PCCA Genetics information (+)
GRCh38
Chr : -
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
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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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