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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
FDPS - Farnesyl Diphosphate Synthase
Alias:
FPS
FPPS
POROK9
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
该基因编码一种酶,该酶催化从异戊烯焦磷酸和二甲基烯焦磷酸产生香叶焦磷酸和法呢酯焦磷酸。产生的产物法呢酯焦磷酸是胆固醇和固醇生物合成的关键中间物,是蛋白质法呢酯化和香叶香叶化的底物,也是某些激素受体和生长受体的配体或激动剂。抑制这种酶的药物可以预防小GTP酶的翻译后修饰,并已用于治疗与骨吸收相关的疾病。在染色体1、7、14、15、21和X上发现了多个假基因。已发现此基因的多个转录变异体,编码不同的异构体。[RefSeq,2008年10月提供]
Related ID:
NCBI:2224
ENSEMBL:ENSG00000160752
HGNC:3631
UNIPROT:P14324
OMIM:134629
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2224
7
11
11800 bp
48.27
16
2
3
22
FDPS 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
Reset
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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