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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
Reference
Wiki: familial hypobetalipoproteinemia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03709 | P04114 | 338 | APOB | Apolipoprotein B-100 [Cleaved into: Apolipoprotein B-48 ] | Homo sapiens |
