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中文人类
PLOD2 - Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Alias:
LH2
TLH
BRKS2
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这个基因编码的蛋白质是一种定位于粗糙内质网囊泡的膜结合同源二聚酶。该酶（辅因子为铁和维生素C）催化胶原样肽中的赖氨酸残基的羟基化。产生的羟赖氨酸基团是胶原中糖类的附着位点，因此对于分子间交联的稳定性至关重要。有些VIB型埃勒斯-丹洛斯综合征患者赖氨酸羟化酶活性缺乏。这个基因编码区的突变与布鲁克综合征有关。可变剪接产生多种编码不同异质体的转录变异体。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PLOD2 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
