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中文人类
PCSK9 - Proprotein Convertase Subtilisin/kexin Type 9
Alias:
FH3
PC9
FHCL3
NARC1
LDLCQ1
NARC-1
HCHOLA3
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这个基因编码一种属于枯草杆菌类似蛋白转化酶家族的成员，该家族包括处理通过分泌途径的调节或组成型分支进行运输的蛋白质和肽前体的主要蛋白酶。编码的蛋白质在ER中与其前片段进行自催化加工事件，并以无活性的蛋白酶形式组成型分泌到细胞外基质和高尔基体网络中。它在肝脏、肠道和肾脏组织中表达，并引导特定的受体进行溶酶体降解。它参与胆固醇和脂肪酸代谢。这个基因的突变与常染色体显性家族性高胆固醇血症有关。可选的剪接导致多个转录变异体。[RefSeq，2014年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PCSK9 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
