Recombinant Human Probable G-protein coupled receptor 101 (GPR101)

1. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-Linked Acrogigantism. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway. PMID:29678281
2. This study shows that different GPR101 transcripts exist and that the brain is the major site of GPR101 expression across different species, although divergent species- and temporal-specific expression patterns are evident. These findings suggest an important role for GPR101 in brain and pituitary development and likely reflect the very different growth, development and maturation patterns among species. PMID:27282544
3. Study showed that X-linked acrogigantism (XLAG) can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. PMID:27245663
4. p.E308D variant not found in acromegaly cases PMID:26815903
5. This study did not identify GPR101 abnormalities as a frequent cause of growth hormone deficiency. PMID:26797872
6. Germline GPR101 mutations are very rare in patients with sporadic pituitary adenomas of various histotypes. PMID:26792934
7. X-linked acrogigantism is caused by an Xq26.3 genomic duplication and is characterized by early-onset gigantism. Also found recurrent mutation in GPR101 in some adults with acromegaly. PMID:25470569
8. GPR101 is a critical requirement for GnRH-(1-5) transactivation of EGFR in Ishikawa cells. PMID:24264576

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HGNC: 14963

UNIGENE: Hs.350569

KEGG: hsa:83550

STRING: 9606.ENSP00000298110

OMIM: 300393