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中文人类
IGHMBP2 - Immunoglobulin Mu DNA Binding Protein 2
Alias:
HCSA
HMN6
CATF1
CMT2S
SMARD1
SMUBP2
ZFAND7
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这个基因编码一个结合免疫球蛋白μ链切换区特定DNA序列的核糖核苷酸还原酶家族成员。这个基因的突变导致1型脊髓肌萎缩伴呼吸窘迫。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
IGHMBP2 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
