Glial cells missing homolog 2 (GCM2), also known as Chorion-specific transcription factor GCMb, is a 506 amino acid nuclear protein. GCM2 is a transcription factor that acts as an essential regulator of parathyroid development. GCM2 is also thought to mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. GCM2 contains one N-terminal GCM domain, which has DNA binding activity. Mutations of the gene that encodes GCM2 are associated with hypoparathyroidism, an autosomal recessive condition characterized by hypocalcemia and hyperphosphatemia.
Synonyms: Chorion-specic transcription factor GCMb, GCM mot protein 2, GCMb, Glial cells missing homolog 2, glial cells missing homolog b, GCM2_HUMAN.