5ofb
Jump to navigation
Jump to search
Crystal structure of human MORC2 (residues 1-603) with spinal muscular atrophy mutation S87LCrystal structure of human MORC2 (residues 1-603) with spinal muscular atrophy mutation S87L
Structural highlights
DiseaseMORC2_HUMAN The disease is caused by mutations affecting the gene represented in this entry. FunctionMORC2_HUMAN Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). May act as a transcriptional repressor (PubMed:20225202). Down-regulates CA9 expression (PubMed:20110259).[1] [2] [3] References
|
|