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中文人类
PHF6 - PHD Finger Protein 6
Alias:
BFLS
BORJ
CENP-31
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这个基因是植物同源域(PHD)样指环(PHF)家族的成员。它编码一个具有两个PHD型锌指结构的蛋白质，表明在转录调控中具有潜在作用，并定位在核仁中。影响该基因编码区域或转录剪接的突变与Borjeson-Forssman-Lehmann综合征(BFLS)有关，这是一种以认知障碍、癫痫、性腺功能减退、低代谢、面部皮下组织肿胀、眼睑裂狭窄和大耳朵为特征的疾病。交替剪接导致多个转录变异体，编码不同的异构体。[RefSeq,2010年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PHF6 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
