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d3GHR

Meaning

d3GHR refers to a specific, naturally occurring genetic polymorphism within the human Growth Hormone Receptor (GHR) gene, characterized by the in-frame deletion of exon 3. This deletion results in a truncated receptor isoform that lacks the d3-encoded sequence in its extracellular domain. The d3GHR variant is clinically significant because it alters the receptor’s signaling characteristics, potentially leading to differential biological responses to circulating growth hormone. It is an important factor in understanding the variability in growth and metabolic responses among individuals.