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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
AK4 - Adenylate Kinase 4
Alias:
AK3
AK 4
AK3L1
AK3L2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码腺苷酸激酶家族中的一种酶。编码的蛋白质定位在线粒体基质中。腺苷酸激酶通过催化这些核苷酸之间的磷酸基团的可逆转移来调节细胞内的腺苷和鸟苷酸组成。在脊椎动物中已经发现了五种腺苷酸激酶同工酶。这些同工酶的表达具有组织特性和发育调节性。这个基因的一个假基因位于染色体17上。已经在这个基因中发现了三个编码相同蛋白质的转录变异体。序列比对表明,由NM_013410、NM_203464和NM_001005353定义的基因位于染色体1上。[由RefSeq,2008年7月提供]
Related ID:
NCBI:205
ENSEMBL:ENSG00000162433
HGNC:363
UNIPROT:P27144
OMIM:103030
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
205
6
5
84594 bp
25.27
9
--
3
16
AK4 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
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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
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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