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中文人类
DNMT3B - DNA Methyltransferase 3 Beta
Alias:
ICF
ICF1
FSHD4
M.HsaIIIB
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CpG甲基化是一种表观遗传修饰，对胚胎发育、印记和X染色体失活具有重要意义。研究表明，DNA甲基化是哺乳动物发育所必需的。该基因编码一种DNA甲基转移酶，被认为在新生甲基化而非维持甲基化中发挥作用。该蛋白主要定位在细胞核中，其表达受发育调控。该基因的突变导致免疫缺陷-着丝粒不稳定-面部异常（ICF）综合征。已描述了8种可变剪接转录变异体。变异体4和5的完整序列尚未确定。[由RefSeq提供，2011年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DNMT3B 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
