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.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Guan B et al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
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2. |
Ding C et al. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
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3. |
Baumber L et al. (2005) Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
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4. |
Orphanet article
Orphanet ID 159623
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5. |
NCBI article
NCBI 9247
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6. |
OMIM.ORG article
Omim 603716
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7. |
Wikipedia article
Wikipedia EN (GCM2)
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Update: Aug. 14, 2020