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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
PDSS1 - Decaprenyl Diphosphate Synthase Subunit 1
Alias:
DPS
SPS
TPT
COQ1
TPRT
COQ1A
TPT 1
hDPS1
COQ10D2
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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一种延长辅酶Q预烯侧链的酶,或泛醌,它是呼吸链中的关键元素之一。基因产物催化聚异戊二烯侧链组装中从异戊二磷酸形成所有反式聚异戊二烯焦磷酸,辅酶Q生物合成的第一步。尽管迄今为止尚未确定任何转运肽,但该蛋白质可能与线粒体内膜周缘相关。该基因的缺陷是导致辅酶Q10缺乏的原因。[RefSeq,2008年7月提供]
Related ID:
NCBI:23590
ENSEMBL:ENSG00000148459
HGNC:17759
UNIPROT:Q5T2R2
OMIM:607429
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23590
7
12
49098 bp
46.26
282
1
4
6
PDSS1 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
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Type
Name
MGI
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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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