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GENATLAS PHENOTYPE
last update : 18/10/2008
Symbol ABLP
Location 4q24
Name abetalipoproteinemia
Other name(s) Bassen-Kornzweig syndrome
Corresponding gene MTTP
Other symbol(s) MTTP, ABL
Main clinical features
  • fat malabsorption, lack of cholesterol, triglyceride and fat-soluble vitamin absorption and transport from the small intestine, steatorrhea, diarrhea and failure to thrive
  • progressive neuropathy and myopathy
  • retinitis pigmentosa, retinal structural degeneration, reduction in deep tendon reflexes and proprioception, and bleeding secondary to prothrombin deficiency
  • acanthocytosis (red cell deformation)
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    neurology
    hematology
    Type disease
    Gene product
    Name microsomal triglyceride transfer protein (MTP), required for normal assembly and secretion of apoB-containing proteins. The resulting vitamin E deficiency causes the neurologic syndrome.
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types uniparental disomy   maternal isodisomy in one case
    Remark(s)