基因名:
GCM2
产品别名:
FIH2; GCMB; HRPT4; hGCMb; GCM2; glial cells missing transcription factor 2; glial cells missing transcription factor 2; chorion-specific transcription factor GCMb; GCM motif protein 2; glial cells missing 2; glial cells missing homolog 2; glial cells missing homolog b; glide/gcm protein homolog; 绒毛膜特异性转录因子GCM2;
背景信息:
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.