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中文人类
NUS1 - NUS1 Dehydrodolichyl Diphosphate Synthase Subunit
Alias:
NgBR
MRD55
CDG1AA
C6orf68
TANGO14
MGC:7199
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这个基因编码I型单跨膜结构域受体，作为顺-预苯基转移酶的亚单位，并作为神经和心血管调节剂Nogo-B的特异性受体。编码的蛋白质对Dolichol合成和蛋白质糖基化是必需的。这个基因在非小细胞肺癌以及雌激素受体-alpha阳性的乳腺癌细胞中高表达，它促进上皮-间质转化。这个基因与人类肝细胞癌患者的预后不良相关。这个基因的自然突变导致先天性糖基化障碍，并与癫痫有关。小鼠中该基因的敲除导致在6.5天前的胚胎致死。这个基因的假基因位于染色体13和X上。[RefSeq提供，2017年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NUS1 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
