Disease

Abetalipoproteinemia

About the Disease
Abetalipoproteinemia, also known as acanthocytosis, is related to hypobetalipoproteinemia, familial, 2 and hypobetalipoproteinemia, familial, 1, and has symptoms including ataxia An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways/superpathways are Metabolism of proteins and Metabolism. The drugs Tocopherol and DL-alpha-Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and retina, and related phenotypes are acanthocytosis and steatorrhea

Common Targets
ANGPTL3 | PKLR | SEC23A | PCSK9 | MTTP | APOB

疾病靶点研报
Abetalipoproteinemia

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