TMEM127 Antibody, HRP conjugated

1. Of which 4 SDHB and 2 TMEM127 mutations were novel. PMID: 26960314
2. Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. PMID: 26591561
3. We report the first case of an individual with both a pheochromocytoma and a multilocular clear cell renal cell carcinoma driven by a novel germline mutation in the TMEM127 gene, with a sibling and 2 sons with the same mutation. PMID: 25800244
4. Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related pheochromocytoma. PMID: 25389632
5. A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X. PMID: 23551308
6. TMEM127 protein localizes in lysosomes in HeLa cells PMID: 21752829
7. report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population. PMID: 22541004
8. TMEM127 is a novel pheochromocytoma susceptibility gene.[review] PMID: 21447639
9. TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. PMID: 21613359
10. Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma. PMID: 20923864
11. Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms; mutations disrupt intracellular distribution of the FP/TMEM127 protein. PMID: 21156949
12. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma and identify TMEM127 as a tumor suppressor gene. PMID: 20154675

Show More

Hide All

HGNC: 26038

OMIM: 171300

KEGG: hsa:55654

STRING: 9606.ENSP00000258439

UniGene: Hs.164303