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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
KDM5A - Lysine Demethylase 5A
Alias:
RBP2
RBBP2
RBBP-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个Jumonji家族成员,富含AT的交互结构域1(JARID1)组蛋白去甲基化酶蛋白家族。编码的蛋白质通过特异性地去除组蛋白H3的赖氨酸4上的甲基,在基因调控中起到作用。这个蛋白质与许多其他蛋白质相互作用,包括视网膜母细胞瘤蛋白,并且与Hox基因和细胞因子的转录调控有关。这个基因可能在肿瘤进展中发挥作用。[RefSeq,2013年8月提供]
Related ID:
NCBI:5927
ENSEMBL:ENSG00000073614
HGNC:9886
UNIPROT:P29375
OMIM:180202
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5927
1
28
109264 bp
192.09
94
1
7
28
KDM5A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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