Biological Context
Subcellular Location: Cytoplasmic vesicle, secretory vesicle; Secreted
Disease Association: 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. [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. [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] | [Genetic variation affecting the GNAS locus is associated with GNAS hyperfunction, a condition 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]
Product Specifications
Recombinant Human Neuroendocrine secretory protein 55 (GNAS) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 47-245aa, with N-terminal 6xHis-tagged tag, molecular weight 28.7kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
