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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
KIF12 - Kinesin Family Member 12
Alias:
PFIC8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码微管相关分子马达的kinesin超家族成员,与微管的细胞骨架功能有关。这个超家族的成员在细胞内运输和细胞分裂中扮演重要角色。小鼠中类似的一种蛋白在β细胞抗氧化信号级联中发挥作用,作为转录因子特异性蛋白1(Sp1)的支架。缺乏这个基因的小鼠表现出β细胞氧化应激,导致胰岛素缺乏和葡萄糖耐受不良。[由RefSeq,2016年7月提供]
Related ID:
NCBI:113220
ENSEMBL:ENSG00000136883
HGNC:21495
UNIPROT:Q96FN5
OMIM:611278
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
113220
8
19
7655 bp
70.66
59
1
3
7
KIF12 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)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
Organ
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Interactions
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Related Mouse Models
Type
Name
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Mutations
No data available
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References Literature
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No Data Found!
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