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中文人类
PRF1 - Perforin 1
Alias:
P1
PFP
HPLH2
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这个基因编码一个与补体成分C9具有结构相似性的蛋白质，在免疫中起着重要作用。这种蛋白质形成膜孔，使颗粒酶释放并随后导致靶细胞的细胞溶解。孔的形成是在靶细胞的质膜上还是在内质网膜上仍有争议。这个基因的突变与多种人类疾病相关，包括糖尿病、多发性硬化、淋巴瘤、自身免疫性淋巴增生综合症（ALPS）、再生障碍性贫血、家族性噬血细胞综合征2型（FHL2），这是一种罕见且致命的常染色体隐性儿童期疾病。[RefSeq,2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PRF1 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
