A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility
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Common Genetic Variant of insig2 Gene rs7566605 Polymorphism Is Associated with Severe Obesity in North India
Background: Obesity is a very common disorder resulting from an imbalance between food intake and energy expenditure, and it has a substantial impact on the development of chronic diseases. The aim of this study was to examine the association of INSIG2 (rs7566605) gene polymorphism with obesity and obesity associated phenotypes in North Indian subjects. Methods: The variants were investig...
متن کاملThe G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.
Autosomal-dominant missense mutations in LRRK2 (leucine-rich repeat kinase 2) are a common genetic cause of PD (Parkinson's disease). LRRK2 is a multidomain protein with kinase and GTPase activities. Dominant mutations are found in the domains that have these two enzyme activities, including the common G2019S mutation that increases kinase activity 2-3-fold. However, there is also a genetic var...
متن کاملThe GARP gene encodes a new member of the family of leucine-rich repeat-containing proteins.
We have characterized a new human gene, named GARP, localized in the 11q14 chromosomal region. GARP comprises two coding exons, is expressed as two major transcripts of 4.4 and 2.8 kilobases, respectively, and encodes a putative transmembrane protein of 662 amino acids, the extracellular portion of which is almost entirely made of leucine-rich repeats. The molecular weight of the protein immuno...
متن کاملBK potassium channel modulation by leucine-rich repeat-containing proteins.
Molecular diversity of ion channel structure and function underlies variability in electrical signaling in nerve, muscle, and nonexcitable cells. Regulation by variable auxiliary subunits is a major mechanism to generate tissue- or cell-specific diversity of ion channel function. Mammalian large-conductance, voltage- and calcium-activated potassium channels (BK, K(Ca)1.1) are ubiquitously expre...
متن کاملLeucine-Rich Repeat (LRR) Domains Containing Intervening Motifs in Plants
LRRs (leucine rich repeats) are present in over 14,000 proteins. Non-LRR, island regions (IRs) interrupting LRRs are widely distributed. The present article reviews 19 families of LRR proteins having non-LRR IRs (LRR@IR proteins) from various plant species. The LRR@IR proteins are LRR-containing receptor-like kinases (LRR-RLKs), LRR-containing receptor-like proteins (LRR-RLPs), TONSOKU/BRUSHY1,...
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ژورنال
عنوان ژورنال: Human Cell
سال: 2013
ISSN: 1749-0774
DOI: 10.1007/s13577-013-0081-8