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中文人类
SBDS - SBDS Ribosome Maturation Factor
Alias:
SDS
SDO1
SWDS
CGI-97
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这个基因编码一个高度保守的蛋白质，在核糖体生物发生中扮演着基本角色。编码的蛋白质与延伸因子样GTP酶1相互作用，使真核起始因子6从晚期的细胞质预60S核糖体亚基上解离，从而允许80S亚基的组装。这个基因中的突变与常染色体隐性疾病施瓦茨曼-博丁-钻石综合征有关。这个基因有一个位于远端的紧密连接的假基因。[由RefSeq，2017年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SBDS 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
