Glial cells missing transcription factor 2 (GCM2)

Glial cells missing transcription factor 2 (GCM2) is a parathyroid cell-specific transcription factor essential for the development, survival, and function of parathyroid glands[4][6]. It contains a unique N-terminal zinc-coordinating DNA-binding domain (the GCM motif) along with regulatory and activation domains. GCM2 controls the expression of key genes including parathyroid hormone (PTH) and is crucial for parathyroid organogenesis and calcium homeostasis[2][4][6]. Loss-of-function mutations in GCM2 result in failed parathyroid development and clinical hypoparathyroidism, while activating mutations or increased expression may cause familial isolated hyperparathyroidism and predispose to parathyroid tumors[4][6]. GCM2 is not considered a direct drug target currently but is highly relevant as a genetic and pathophysiological driver in calcium metabolic disorders.

Other names

Glial cells missing-2Chorion-specific transcription factor GCMbGCMBParathyroid developmental transcription factor GCM2

Drugs or genetic changes affecting GCM2 would alter its transcriptional regulation of parathyroid hormone (PTH) and related parathyroid genes; loss-of-function mutation leads to hypoparathyroidism (due to parathyroid agenesis), gain-of-function/increased activity associated with hyperparathyroidism[4][6]