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apolipoprotein B
Function:
- major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) & VLDL (apo B-100)
- apo B-100 functions as a recognition signal for the cellular binding & internalization of LDL particles by the apoB/E receptor (LDL receptor)
Structure:
- palmitoylated structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle
- contains 1 vitellogenin domain
Compartment: secreted
RNA editing:
- modified positions=2180
- the stop codon (UAA) at position 2180 is created by RNA editing
- apo B-48, derived from the fully edited RNA, is produced only in the intestine & is found in chylomicrons
- apo B-48 is a shortened form of apo B-100 which lacks the LDL-receptor region
Expression:
- liver (apo B-100); intestine (apo B-48)
- up-regulated in response to enterovirus 71 (EV71) infection (at protein level)
Pathology:
- defects in APOB are a cause of
- familial hypobetalipoproteinemia type 1
- familial ligand-defective apolipoprotein B-100
- defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia
* see ARUP consult [3]
Related
apolipoprotein A1/B in serum
Specific
apolipoprotein B100 (apoB100)
apolipoprotein B48 (apoB48)
General
apolipoprotein
beta globulin
phosphoprotein
Properties
COMPARTMENT: plasma
MOTIF: binding site
FOR-BINDING-OF: lipid
phosphorylation site
Database Correlations
OMIM correlations
MORBIDMAP 107730
UniProt P04114
PFAM correlations
Entrez Gene 338
Kegg hsa:338
References
- Entrez Gene :accession 338
- UniProt :accession P04114
- ARUP Consult: Apolipoprotein B Mutation Detection
https://arupconsult.com/ati/apolipoprotein-b-mutation-detection