Gene Symbol | GCM2 |
Entrez Gene ID | 9247 |
Full Name | glial cells missing homolog 2 |
Synonyms | GCMB,HRPT4,hGCMb |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hypoparathyroidism, familial isolated, 146200 (3); Hyperparathyroidism 4, 617343 (3) |