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中文人类
DKC1 - Dyskerin Pseudouridine Synthase 1
Alias:
DKC
CBF5
DKCX
NAP57
NOLA4
XAP101
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这个基因在两个不同的复合体中发挥作用。它在端粒酶的稳定性和维持以及识别含有H/ACA序列的snoRNAs方面发挥积极作用，这有助于在生物发生和组装成H/ACA小核仁RNA核蛋白复合物（snoRNPs）过程中保持稳定。这个基因高度保守且广泛表达，可能还在核质穿梭、DNA损伤响应和细胞粘附方面发挥其他作用。与X连锁遗传性皮肤炎有关。可变剪接导致多个转录变异体。[RefSeq,2014年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DKC1 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
