SLC25A46 pathway (WP5521)
Homo sapiens
SLC25A46 is one of the genes found in Charcot-Marie-Tooth disorder. This pathway has been analyzed with expression data. View the pathway with expression data visualization: https://classic.wikipathways.org/index.php/Image:SLC25A46-Pathway.pdf#file. Download the pathway with expression data visualization: [[Image:SLC25A46-Pathway.pdf]]
For a description of pathway objects, see the WikiPathways Legend.
Authors
KatelynCasseres , Sanauwbar Mohammad , Alex Pico , Egon Willighagen , Eric Weitz , and Daniela DiglesActivity
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Cited In
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
disease pathwayDisease Ontology
Charcot-Marie-Tooth disease| Label | Type | Compact URI | Comment |
|---|---|---|---|
| PE | Metabolite | chebi:6445 | |
| PS | Metabolite | chebi:18303 | |
| MFN2 | GeneProduct | ensembl:ENSG00000116688 | |
| MFN1 | GeneProduct | ensembl:ENSG00000171109 | |
| EMC4 | GeneProduct | ensembl:ENSG00000128463 | |
| EMC3 | GeneProduct | ensembl:ENSG00000125037 | |
| OPA1 | GeneProduct | ensembl:ENSG00000198836 | |
| EMC6 | GeneProduct | ensembl:ENSG00000127774 | |
| EMC8 | GeneProduct | ensembl:ENSG00000131148 | |
| SLC25A46 | GeneProduct | ensembl:ENSG00000164209 | |
| MMGT1 | GeneProduct | ensembl:ENSG00000169446 | |
| APOO | GeneProduct | ensembl:ENSG00000184831 | |
| IMMT | GeneProduct | ensembl:ENSG00000132305 | |
| MICOS13 | GeneProduct | ensembl:ENSG00000174917 | |
| CHCHD6 | GeneProduct | ensembl:ENSG00000159685 | |
| EMC1 | GeneProduct | ensembl:ENSG00000127463 | |
| EMC7 | GeneProduct | ensembl:ENSG00000134153 | |
| MICOS10 | GeneProduct | ensembl:ENSG00000173436 | |
| APOOL | GeneProduct | ensembl:ENSG00000155008 | |
| CHCHD3 | GeneProduct | ensembl:ENSG00000106554 | |
| DNM1L | GeneProduct | ensembl:ENSG00000087470 | |
| EMC10 | GeneProduct | ensembl:ENSG00000161671 | |
| EMC2 | GeneProduct | ensembl:ENSG00000104412 |
References
- SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, et al. EMBO Mol Med. 2016 Sep 1;8(9):1019–38. PubMed Europe PMC Scholia
- Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, et al. Brain. 2016 Nov 1;139(11):2877–90. PubMed Europe PMC Scholia
- The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. Schuettpelz J, Janer A, Antonicka H, Shoubridge EA. Life Sci Alliance. 2023 Mar 28;6(6):e202301914. PubMed Europe PMC Scholia