PCSK5 (Proprotein Convertase Subtilisin/Kexin Type 5)
نویسندگان
چکیده
منابع مشابه
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound muta...
متن کاملGenetic Variation at the Proprotein Convertase Subtilisin/Kexin Type 5 Gene Modulates HDL Cholesterol Levels
Department of Biochemistry and Department of Human Genetics, Cardiovascular Research Laboratories, Cardiology Division, Faculty of Medicine, McGill University Health Centre/Royal Victoria Hospital, Montreal, Quebec, H3A 1A1, Canada. Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. Department of Medicine, Helsinki University Central Hospital, HUS...
متن کاملSubtilisin-related Proprotein Convertase Endoproteolytic Site*
The human thyrotropin receptor (TSHR) undergoes proteolytic cleavage closely upstream to amino acid 317. Between residues 261 and 313 are three clusters of positively charged amino acids, arginines (Arg) and lysines (Lys), which are potential subtilisin-related proprotein convertase sites. We used oligonucleotide-directed mutagenesis to perform conservative amino acid substitutions within these...
متن کاملPrediction of proprotein convertase cleavage sites.
Many secretory proteins and peptides are synthesized as inactive precursors that in addition to signal peptide cleavage undergo post-translational processing to become biologically active polypeptides. Precursors are usually cleaved at sites composed of single or paired basic amino acid residues by members of the subtilisin/kexin-like proprotein convertase (PC) family. In mammals, seven members...
متن کاملGenetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels.
BACKGROUND A low level of plasma high-density lipoprotein cholesterol (HDL-C) is a risk factor for cardiovascular disease. HDL particles are modulated by a variety of lipases, including endothelial lipase, a phospholipase present on vascular endothelial cells. The proprotein convertase subtilisin/kexin type 5 (PCSK5) gene product is known to directly inactivate endothelial lipase and indirectly...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2015
ISSN: 1768-3262
DOI: 10.4267/2042/56410