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last update : 24-11-2020
Symbol FHBL1
Location 2p24.1
Name familial hypobetalipoproteinemia type 1
Corresponding gene APOB
Main clinical features
  • fat malabsorption, lack of cholesterol, triglyceride and fat-soluble vitamin absorption and transport from the small intestine and reduced plasma cholesterol
  • progressive neurologic disease with retinis pigmentosa and acanthocytosis
  • Genetic determination autosomal dominant
    Related entries FHBL2, FDB
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name apolipoprotein B (APOB)
    Gene mutationChromosome rearrangementEffectComments
    various types     truncated forms of APOB due to deletion/substitution, transitions type mutations
    Remark(s) mutant L343V and R463W altered folding of the alpha-helical domain within the N terminus of apoB (proper folding of the -helical domain within the N terminus of apoB is important for efficient secretion of apoB-containing lipoproteins)
    Genotype/Phenotype correlations autosomal codominant trait, obligate heterozygote show isolated hypocholesterolemia