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中文人类
PHF8 - PHD Finger Protein 8
Alias:
KDM7B
JHDM1F
MRXSSD
ZNF422
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这个基因编码的蛋白质是一种优先作用于单甲基或二甲基组蛋白的组蛋白赖氨酸去甲基化酶。编码的蛋白质需要Fe(2+)离子、2-氧戊二酸和氧来催化其活性。该蛋白质具有N-端PHD手指和中央Jumonji C结构域。这个基因被认为是一种转录激活因子。这个基因的缺陷是导致综合征性X-连锁Siderius型智力障碍（MRXSSD）的原因，而这个基因的过度表达与几种癌症有关。已经发现这个基因有不同的转录变异体，编码不同的异构体。[由RefSeq，2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PHF8 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
