| Description | the gene encodes a guanine nucleotide exchange factor; 1544 amino acids; NH2- PDZ domain, Lsc homology (LH) domain, bipartite nuclear localization signal, Dbl homology (DH) domain, and a pleckstrin homology (PH) domain -COOH |
| Expression | wide (leukocytes, spleen, prostate, testis, ovary, small intestine, colon, thymus) |
| Function | PDZ domains are involved in protein-protein interactions in transmembrane signaling pathways; LH domains bind G proteins; nuclear localization signals are implicated in translocation of proteins from the cytoplasm to the nucleus; DH domains are responsible for the nucleotide exchange activity of guanine nucleotide exchange (GEF) toward Rho GTPases, PH domains function in membrane localization; Rho GEF are regulators of GTPases, and have oncogenic properties |
| Homology | member of the family of Rho GEF factors, like dbl, vav, tiam, and BCR |
| Entity | acute non lymphocytic leukemia (ANLL) with apparently normal cromosomes 11 --> MLL- LARG |
| Note | poorly defined: only 1 case to date, a 38 yr old male patient with occupational exposure; M4-ANLL; CR; death unrelated to the leukemia |
| Cytogenetics | the case was 51,XY,+8,+19,+3mar; the interstitial deletion at 11q23 resulting in MLL-LARG fusion cannot be seen at the chromosome level |
| Hybrid/Mutated Gene | 5' MLL fused at exon 6 with the 3' end of almost the entire LARG; LARG is oriented in a 5' to 3'direction, like MLL |
| Abnormal Protein | excludes the NH2- PDZ domain of LARG, and includes most of LARG, from the Lsc homology (LH) domain to COOH |
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