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中文人类
KMT2D - Lysine Methyltransferase 2D
Alias:
ALR
KMS
MLL2
MLL4
AAD10
BCAHH
KABUK1
TNRC21
CAGL114
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这个基因编码的蛋白质是一种对组蛋白H3的Lys-4位置进行甲基化的组蛋白甲基转移酶。编码的蛋白质是被称为ASCOM的大型蛋白质复合体的一部分，已被证明是β-珠蛋白和雌激素受体基因的转录调节因子。这个基因的突变已被证明是菊竹综合症的原因。[RefSeq，2010年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KMT2D 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
