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Beschreibung

GCM2 is a nuclear protein that is involved in transcription regulation of many genes including ones important in parathyroid metabolism and development. Glial cells missing homolog 2 or GCM2 is expressed predominately in the pharyngeal pouches and, at later stages, in the developing and mature parathyroid glands. In humans, loss of GCM2 function, either through recessive apomorphic mutations or dominant inhibitor mutations in the human GCM2 gene, leads to isolated hypoparathyroidism. GCM2 expression is continued in the adult parathyroid at high levels and appears to be important in calcium sensing and calcium receptor expression in adult parathyroid cells.