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中文人类
TGDS - TDP-glucose 4,6-dehydratase
Alias:
TDPGD
SDR2E1
CATMANS
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这个基因编码的蛋白质是短链脱氢酶/还原酶(SDR)超家族的一员，被认为含有烟酰胺腺嘌呤二核苷酸(NAD)结合结构域。这个大型SDR酶家族参与各种化合物的代谢，包括前列腺素、类胡萝卜素、脂质、类固醇激素和外来生物。这个基因的突变与Catel-Manzke综合征有关，其特征是Pierre Robin序列和指数指的放射状偏离，因为指数指和其近端掌骨之间存在一个附属骨。Pierre Robin序列定义为下颌过小、舌基底向后移位导致气道阻塞，也可以与腭裂有关。选择性剪接导致多个转录变异体。[RefSeq，2015年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TGDS 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
Title
PMID
Journal
Year
IF
