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APOB - apolipoprotein B
- Synonym(s) :
- Previous symbols and names : Apolipoprotein B (including Ag(x) antigen), apolipoprotein B (including Ag(x) antigen)
- Type : gene with protein product
- Chromosomal location : 2p24.1
- OMIM: 107730
- HGNC: 603
- UniProtKB: P04114
- Genatlas: APOB
- GenCC: APOB
- Ensembl: ENSG00000084674
- IUPHAR-DB: -
- Reactome: P04114
- LOVD: APOB
Diseases list
- Disease-causing germline mutation(s) in Homozygous familial hypercholesterolemia
ORPHA:391665 
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
ORPHA:406 - Disease-causing germline mutation(s) (loss of function) in NON RARE IN EUROPE: Familial hypobetalipoproteinemia
ORPHA:426
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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