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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
AKR1C4 - Aldo-keto Reductase Family 1 Member C4
Alias:
C11
CDR
DD4
CHDR
DD-4
HAKRA
3-alpha-HSD
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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aldo/keto还原酶超家族的一员,该超家族由40多种已知的酶和蛋白质组成。这些酶通过利用NADH和/或NADPH作为辅因子,将醛和酮转化为它们相应的醇。这些酶具有重叠但不同的底物特异性。这个酶催化氯丹,一种有毒的有机氯农药,在肝脏中生物还原为氯丹醇。这个基因与其他三个基因成员具有高度的序列一致性,并与这些基因在染色体10p15-p14处聚类。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1109
ENSEMBL:ENSG00000198610
HGNC:387
UNIPROT:P17516
OMIM:600451
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1109
1
9
22113 bp
37.07
29
1
16
17
AKR1C4 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
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Cell-specific RNA expression
Organ
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Interactions
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Acting
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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
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Journal
Year
IF
No Data Found!
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