Biomaterial Database

Mutations affecting human lipoprotein lipase gene. 1996

M Antikainen, and H Tenkanen, and M R Taskinen, and C Ehnholm

Third Department of Internal Medicine, University of Helsinki, Finland.

UI	MeSH Term	Description	Entries
D006953	Hyperlipoproteinemia Type IV	A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.	Hyperprebetalipoproteinemia,Hypertriglyceridemia, Familial,Carbohydrate Inducible Hyperlipemia,Carbohydrate-Inducible Hyperlipemia,Familial Hyperlipoproteinemia Type 4,Familial Type IV Hyperlipoproteinemia,Hyper prebeta lipoproteinemia,Hyperlipoproteinemia, Type IV,Carbohydrate Inducible Hyperlipemias,Carbohydrate-Inducible Hyperlipemias,Familial Hypertriglyceridemia,Hyperlipemia, Carbohydrate Inducible,Hyperlipemia, Carbohydrate-Inducible,Hyperlipemias, Carbohydrate Inducible,Hyperlipemias, Carbohydrate-Inducible,Hyperlipoproteinemias, Type IV,Inducible Hyperlipemia, Carbohydrate,Inducible Hyperlipemias, Carbohydrate,Type IV Hyperlipoproteinemia,Type IV Hyperlipoproteinemias,Type IV, Hyperlipoproteinemia
D008071	Lipoprotein Lipase	An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinemia Type I. (Dorland, 27th ed) EC 3.1.1.34.	Heparin-Clearing Factor,Lipemia-Clearing Factor,Diacylglycerol Lipase,Diglyceride Lipase,Post-Heparin Lipase,Postheparin Lipase,Postheparin Lipoprotein Lipase,Factor, Heparin-Clearing,Factor, Lipemia-Clearing,Heparin Clearing Factor,Lipase, Diacylglycerol,Lipase, Diglyceride,Lipase, Lipoprotein,Lipase, Post-Heparin,Lipase, Postheparin,Lipase, Postheparin Lipoprotein,Lipemia Clearing Factor,Lipoprotein Lipase, Postheparin,Post Heparin Lipase
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595	Amino Acid Sequence	The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.	Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D014280	Triglycerides	An ester formed from GLYCEROL and three fatty acid groups.	Triacylglycerol,Triacylglycerols,Triglyceride
D015971	Gene Expression Regulation, Enzymologic	Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.	Enzymologic Gene Expression Regulation,Regulation of Gene Expression, Enzymologic,Regulation, Gene Expression, Enzymologic