Last Updated: December 14, 2022 Introduction to Tangier Disease Tangier disease (TD) is an autosomal recessive disorder resulting from defects in the ATP-binding cassette (ABC) transporter family gene, ABCA1. The disease is so named because it was originally...
Last Updated: May 23, 2024 Introduction to Angiopoietin-Like Protein 3: ANGPTL3 Angiopoietin-like protein 3 (also known as angiopoietin 5) is produced exclusively by the liver and secreted into the circulation. Prior to its release from hepatocytes, a portion of the...
Last Updated: January 10, 2024 Introduction to Abetalipoproteinemia Abetalipoproteinemia is a dyslipidemic disorder resulting from mutations in the gene (MTTP) encoding microsomal triglyceride transfer protein, MTP. There are three essential functions associated with...
Last Updated: May 7, 2024 Clinical Features of PCSK9-Mediated FHBL Familial hypobetalipoproteinemia syndrome (FHBL) is causally associated with increased hepatic fat content. The most common mutations associated with FHBL are truncating mutations in the APOB gene....
Last Updated: June 29, 2024 Clinical Features of APOB Truncation Mutations Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder that is most commonly due to truncating loss-of-function mutations in the APOB gene. The characteristic features of...