GCM2
Domain
The C-terminal conserved inhibitory domain (CCID) negatively regulates the transcriptional activity of the protein.
Function
Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.
Involvement in disease
Hypoparathyroidism, familial isolated, 2
FIH2
An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps.
None
The disease is caused by variants affecting the gene represented in this entry.
Hyperparathyroidism 4
HRPT4
A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
GCMB, GCM2, Chorion-specific transcription factor GCMb, hGCMb, GCM motif protein 2, Glial cells missing homolog 2