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TMEM127 encodes a transmembrane protein with 3 predicted transmembrane domains. Additionally we are shipping TMEM127 Antibodies (7) and and many more products for this protein.
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Of which 4 SDHB (show SDHB ELISA Kits) and 2 TMEM127 mutations were novel.
Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations.
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.
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.
A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X.
TMEM127 protein localizes in lysosomes in HeLa cells
report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population.
TMEM127 is a novel pheochromocytoma susceptibility gene.[review]
TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma.
Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma.
This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified.
transmembrane protein 127