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ENHuman
LDLRAP1 - Low Density Lipoprotein Receptor Adaptor Protein 1
Alias:
ARH
ARH1
ARH2
FHCB1
FHCB2
FHCL4
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The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LDLRAP1 Genetics information (+)
GRCh38
Chr : -
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
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Mutations
Transcripts & Proteins
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Tile View
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Transcript
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CDS(bp)
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Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Name
MGI
Strain of Origin
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References Literature
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