GNAS
Involvement in disease
ACTH-independent macronodular adrenal hyperplasia 1
AIMAH1
A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
None
The disease is caused by variants affecting the gene represented in this entry.
Pseudohypoparathyroidism 1B
PHP1B
A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH.
None
The disease is caused by variants affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed.
GNAS hyperfunction
GNASHYP
This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and intellectual disability. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Binds keratan sulfate chains.
May be proteolytically processed to give rise to a number of active peptides.
Sequence Similarities
Belongs to the NESP55 family.
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Secreted
- Neuroendocrine secretory granules.
Alternative names
GNAS1, GNAS, Neuroendocrine secretory protein 55, NESP55