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MLLT6 (MLLT6, PHD finger containing) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pheochromocytoma and paraganglioma and Bladder & urothelial cancer.
Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC). Up-regulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter.
IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Paraganglioma, Upper Tract Urothelial Carcinoma.
In plain words · MLLT6 (MLLT6, PHD finger containing) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pheochromocytoma and paraganglioma and Bladder & urothelial cancer.
MLLT6 (MLLT6, PHD finger containing) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pheochromocytoma and paraganglioma and Bladder & urothelial cancer.
Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC).
No product in this corpus aims at MLLT6 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
First described 1994. Earliest sequence paper UniProt cites for the protein: Prasad et al, Proc. Natl. Acad. Sci. U.S.A, 1994, "Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia". Source.
Sources: HGNC HGNC:7138 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P55198 (protein name, function text, keywords and locations (REST API)); IntOGen MLLT6 (driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC). Up-regulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter. Location: Nucleus; Cytoplasm (UniProt). Locus 17q12 (HGNC).
Query for this target: (TITLE:"MLLT6" OR ABSTRACT:"MLLT6" OR TITLE:"MLLT6, PHD finger containing" OR ABSTRACT:"MLLT6, PHD finger containing" OR TITLE:"AF17" OR ABSTRACT:"AF17" OR TITLE:"FLJ23480" OR ABSTRACT:"FLJ23480") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about MLLT6, not a curated reading list.