pcsk9 gene function
In contrast to gain-of-function mutations in PCSK9 which cause elevated LDL-C levels and FH/ADH as above, loss-of-function mutations in PCSK9 cause low LDL-C levels [4,5]. Vasc. Experiments with the guinea pig have shown that all human IgG subclasses can pass guinea pig placenta at the last third of pregnancy.317. Sequence conflicts are usually of unknown origin.
This subsection of the 'Sequence' section provides information on polymorphic variants.
However UniProtKB may contain entries with identical sequences in case Please consider upgrading. 32:1585-1595(2012), low-density lipoprotein particle receptor binding, Proc. The Biological General Repository for Interaction Datasets (BioGRID), ComplexPortal: manually curated resource of macromolecular complexes, Protein interaction database and analysis system, STRING: functional protein association networks, BindingDB database of measured binding affinities. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. Inhibited by EGTA. Pregnancy. of multiple genes (paralogs).Whether specific signals can regulate the levels of PCSK9 in the central nervous system is yet to be defined. with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018. In addition, population studies have shown that some nonconservative amino acid substitutions of PCSK9 (p.R46L, p.G106R, p. N157K, p. G236S, p.R237W, p.L253F, and p.A443T) were found to be more frequent in individuals with low plasma cholesterol, although their effect on plasma LDL-C (reduction ranging from 3.5% to 30%) was less pronounced than that of the nonsense mutations (Abifadel et al., 2009).
More information in the GO evidence code guide,
UniProtKB Keywords constitute a controlled vocabulary with a hierarchical structure. This and the observation that loss-of-function nonsense mutations could lead to 88% reduction in the risk of developing cardiovascular artery disease (CAD) during a 15-year period, indicate that inhibition of PCSK9 may represent a safe and effective strategy for the primary prevention of CAD. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals. PCSK9 was first characterized by our group in 2003. PCSK9 has 4,475 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, …More recently, loss-of-function mutations in PCSK9 have also been shown to cause low LDL-C levels (Cohen et al., 2005; Kotowski et al., 2006). It is updated at every UniProt release.
This section provides information on the tertiary and secondary structure of a protein.
This subsection of the 'Structure' section is used to indicate the positions of experimentally determined beta strands within the protein sequence.
This subsection of the 'Structure' section is used to indicate the positions of experimentally determined helical regions within the protein sequence.
This subsection of the 'Structure' section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence.
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