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中文人类
LDLR - Low Density Lipoprotein Receptor
Alias:
FH
FHC
FHCL1
LDLCQ2
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低密度脂蛋白受体（LDLR）基因家族是由参与特异性配体受体介导的内吞作用的细胞表面蛋白质组成的。编码的蛋白质通常在细胞膜上结合，与低密度脂蛋白/胆固醇结合并被吸入细胞内。溶酶体释放胆固醇，可用于抑制微粒体酶3-羟基-3-甲基戊酸辅酶A（HMG CoA）还原酶，这是胆固醇合成中的限速步骤。同时，胆固醇酯合成发生互逆刺激。此基因的突变导致常染色体显性紊乱，家族性高胆固醇血症。交替剪接导致多个转录变异体。[RefSeq提供，2022年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LDLR 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
