SLC25A46 pathway (WP5521)

Homo sapiens

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SLC25A46 is a gene involved in CMT

For a description of pathway objects, see the WikiPathways Legend.

Authors

KatelynCasseres , SanauwbarMohammad , Alex Pico , Egon Willighagen , and Eric Weitz

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

Charcot-Marie-Tooth disease

Pathway Ontology

disease pathway

Participants
Query Drugst.One

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

  1. 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
  2. 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
  3. 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