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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
MAK - Male Germ Cell Associated Kinase
Alias:
RP62
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物是一种丝氨酸/苏氨酸蛋白激酶,与参与细胞周期调节的激酶有关。通过研究小鼠和大鼠的同源物,已经将这种激酶定位在减数分裂期间的染色体上,特别是在精子发生过程中的联会复合体中,此时同源染色体成对存在。这个基因的突变与导致视网膜色素变性62的纤毛缺陷有关。可变剪接导致多个转录变异体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:4117
ENSEMBL:ENSG00000111837
HGNC:6816
UNIPROT:P20794
OMIM:154235
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4117
9
15
75817 bp
70.58
398
4
4
9
MAK 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
Detail
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Score
No data available
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
Title
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Journal
Year
IF
No Data Found!
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