GHSR
LOCUS ID2693
GENE_SYMBOLGHSR
GENE NAMEgrowth hormone secretagogue receptor
SYNONYMNSGHDP
CHROMOSOME3
HOMOLOGENE ID57161
microRNAsNANA
GENE SUMMARY
This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutiory conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Single-locus analyses showed significant main effects of ENPP1 (P = 0.0032; adjusted OR = 1.85; 95% CI = 1.17-2. 92) on the risk of DN in T2D. Furthermore, a potential gene-gene interaction involving ENPP1 and GHSR was suggested in the best two-locus GMDR model (P = 0.021).18575614