Transcription factor GCMB
Inactivating mutations of the GCM2 gene, a transcription factor, result in autosomal recessive hypoparathyroidism while activating mutations result in autosomal dominant familial isolated hyperparathyroidism.
Guan B et al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Ding C et al. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
Baumber L et al. (2005) Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
Orphanet ID 159623
Wikipedia EN (GCM2)
Update: Aug. 14, 2020