abetalipoproteinemia Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). (Human Disease Ontology, DOID_1386)
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Genes

3 genes co-occuring with the biological term abetalipoproteinemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
APOB apolipoprotein B
CD1A CD1a molecule
MTTP microsomal triglyceride transfer protein