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中文人类
SMNDC1 - Survival Motor Neuron Domain Containing 1
Alias:
SMNR
SPF30
TDRD16C
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这个基因是SMN1基因的旁系同源基因，编码运动神经元生存蛋白，SMN1基因的突变导致常染色体隐性近端脊髓肌萎缩。这个基因编码的核蛋白已被鉴定为核糖体碎片复合物的组成成分。这个基因表达存在差异，骨骼肌中丰富表达，可能与SMN1基因具有相似的细胞功能。[RefSeq,2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SMNDC1 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
