5ofb
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Crystal structure of human MORC2 (residues 1-603) with spinal muscular atrophy mutation S87L
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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
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This page was last modified 07:27, 1 May 2024.