LEPR (Leptin receptor)
The Leptin receptor (LEPR) is a cytokine receptor that is involved in the regulation of fat metabolism. Mutations in this gene are associated with obesity and pituitary dysfunction. The LEPR gene has an SVA insertion that lead to a novel C-terminal exon. Implications for this additional exon in human are not understood.
Genome-wide association study reveals a dynamic role of common genetic variation in infant and early childhood growth, , bioRxiv, 2018/01/01, (2018)
Identification of human-specific transcript variants induced by DNA insertions in the human genome., , Bioinformatics, 2011 Jan 1, Volume 27, Issue 1, p.14-21, (2011)
Lys656Asn polymorphism of leptin receptor gene and metabolic syndrome in obese patients., , Eur Rev Med Pharmacol Sci, 05/2011, Volume 15, Issue 5, p.463-8, (2011)
Leptin receptor isoform 219.1: an example of protein evolution by LINE-1-mediated human-specific retrotransposition of a coding SVA element., , Mol Biol Evol, 04/2004, Volume 21, Issue 4, p.647-51, (2004)