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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
KDM4C - Lysine Demethylase 4C
Alias:
GASC1
JHDM3C
JMJD2C
TDRD14C
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是Jumonji结构域2(JMJD2)家族的一员。编码的蛋白质是一种三甲甲基化特异性脱甲基酶,将特定的三甲甲基化组蛋白残基转化为二甲甲基化形式。这种酶促作用调节基因表达和染色体分离。肿瘤细胞中可能发现染色体异常和这个基因的表达变化。可变剪接导致多个转录变异体。[RefSeq,2015年1月提供]
Related ID:
NCBI:23081
ENSEMBL:ENSG00000107077
HGNC:17071
UNIPROT:Q9H3R0
OMIM:605469
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23081
17
22
454786 bp
119.98
54
--
7
8
KDM4C Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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