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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
NME8 - NME/NM23 Family Member 8
Alias:
CILD6
DNAI8
SPTRX2
TXNDC3
NM23-H8
sptrx-2
HEL-S-99
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有N端硫氧还蛋白结构域和三个C端核苷酸二磷酸激酶(NDK)结构域的蛋白质,但NDK结构域被认为在催化方面是无活性的。海胆这个基因的直向同源物编码精子外部动力蛋白臂的成分,该蛋白质与纤毛功能有关。这个基因的突变与原发性纤毛运动障碍6型有关。[由RefSeq,2009年11月提供]
Related ID:
NCBI:51314
ENSEMBL:ENSG00000086288
HGNC:16473
UNIPROT:Q8N427
OMIM:607421
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51314
1
18
51801 bp
67.27
288
2
5
6
NME8 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
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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