※ PTMD 2.0 database Online Browse Options

Browse result for familial hypobetalipoproteinemia

※ introduction

    Abetalipoproteinemia (also known as: Bassen¨CKornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome[2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food.[3] It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

Reference
Wiki: familial hypobetalipoproteinemia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03709P04114338
APOB
Apolipoprotein B-100 [Cleaved into: Apolipoprotein B-48 ]
Homo sapiens