WebJan 27, 2024 · Germline mutations of TMEM127 are a rare cause of familial PPGL syndrome. The endomembrane protein TMEM127 acts as a negative regulator of mTOR pathway. Inactivating mutations of TMEM127 lead to the decreased phosphorylation and the consecutive activation of mTOR signaling [ 56, 57, 58 ]. WebNM_017849.4(TMEM127):c.410-2A>C Cite this record. Cite this record Close. Copy. Help Interpretation: Pathogenic Review status: criteria provided, multiple submitters, no conflicts Submissions: 5 First in ClinVar: ...
Germline mutations in TMEM127 confer susceptibility to …
WebAug 21, 2024 · molecular pathology procedure, level 5 (eg, analysis of 2-5 exons by dna sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by southern blot analysis) ugt1a1 (udp glucuronosyltransferase 1 family, polypeptide a1) (eg, hereditary … WebFeb 23, 2011 · Screening for mutations in the TMEM127 gene may be recommended for patients over 45 years of age with unilateral or bilateral pheochromocytoma, a new study has found. Pheochromocytomas and... me and rush
TMEM127 transmembrane protein 127 - NIH Genetic Testing …
WebJan 16, 2024 · TMEM127 expression was also found in a variety of epithelial cancer cell lines, including those derived from brain, breast, colon, prostate, and liver. Mouse … WebNM_017849.4(TMEM127):c.410-2A>C Cite this record. Cite this record Close. Copy. Help Interpretation: Pathogenic Review status: criteria provided, multiple submitters, no … WebMay 19, 2024 · No mutations were found in VHL, RET, NF1, Tp53, SDHD, SDHB, SDHC, SDHAF2, SDHAF3, SDHA, or TMEM127. In the MAX gene, a novel heterozygous variant, c299G>C (p.Arg100Pro, NM_002382.5), was found. This variant of germline mutation (from peripheral blood) was analyzed with the bioinformatics prediction programs “Sift,” … me and sb