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pseudopseudohypoparathyroidism
Summary
- Synonym
-
- Normocalcemic pseudohypoparathyroidism
- PPHP
- Definition
- A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
- Super Class
- pseudohypoparathyroidism
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5JWF2 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6R0H7 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
