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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
IDI1 - Isopentenyl-diphosphate Delta Isomerase 1
Alias:
IPP1
IPPI1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
IDI1编码一种定位过氧化物的酶,催化异戊烯二磷酸(IPP)向其高电负性异构体,二甲基烯丙基二磷酸(DMAPP)的转换,这是连续反应的底物,导致法尼酯二磷酸的合成,最终产生胆固醇。在过氧化物缺陷疾病如Zellweger综合征和新生儿肾上腺脑白质营养不良中,IPP异构酶活性降低。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3422
ENSEMBL:ENSG00000067064
HGNC:5387
UNIPROT:Q13907
OMIM:604055
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3422
8
5
17553 bp
26.32
10
--
4
11
IDI1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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