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中文人类
HSD17B10 - Hydroxysteroid 17-beta Dehydrogenase 10
Alias:
ABAD
CAMR
ERAB
HCD2
MHBD
HADH2
MRPP2
MRX17
MRX31
SCHAD
MRXS10
SDR5C1
HSD10MD
17b-HSD10
DUPXp11.22
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这个基因编码3-羟酰辅酶A脱氢酶类型II，是短链脱氢酶/还原酶超家族的一员。基因产物是一种线粒体蛋白，能催化多种脂肪酸和类固醇的氧化，并作为线粒体核糖核酸酶P的亚单位，参与tRNA的成熟过程。该蛋白与阿尔茨海默病的发育有关，基因中的突变是导致17β-羟甾脱氢酶类型10（HSD10）缺乏的原因。已经发现了几种可变剪接的转录变异体，但只有两种转录变异体的完整长度已经确定。[由RefSeq，2014年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HSD17B10 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
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PMID
Journal
Year
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