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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
PRDM9 - PR/SET Domain 9
Alias:
PFM6
KMT8B
MSBP3
ZNF899
MEISETZ
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种具有组蛋白甲基转移酶活性的锌指蛋白,在减数前期催化组蛋白H3赖氨酸4的三甲基化(H3K4me3)。这个蛋白质包含多个结构域,包括Kruppel相关盒(KRAB)结构域,SSX抑制结构域(SSXRD),PRD1-BF1和RIZ同源区域,SET(PR/SET)结构域的一个子类,以及C2H2锌指的串联阵列。锌指阵列识别一个短序列基序,导致局部H3K4me3,并具有减数重组热点活性。观察到的等位基因变异改变了蛋白质的DNA结合序列特异性,导致不同个体和种群中的减数重组热点。已经描述了此基因的多个替代等位基因。[由RefSeq,2015年7月提供]
Related ID:
NCBI:56979
ENSEMBL:ENSG00000164256
HGNC:13994
UNIPROT:Q9NQV7
OMIM:609760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56979
2
11
20939 bp
103.38
53
--
27
8
PRDM9 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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