Mitochondrial carrier deficiency associated with shuttle disturbances (WP5507)

Homo sapiens

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Reflecting the pathway as shown in Figure 43.2 of Blau et al. "Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases"

Authors

Daanvanbeek and Egon Willighagen

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Serious Request 2024 - MetaKids

Annotations

Pathway Ontology

glutamine metabolic pathway cancer pathway disease pathway glycine metabolic pathway amino acid metabolic pathway serine metabolic pathway

Disease Ontology

breast cancer triple-receptor negative breast cancer amino acid metabolic disorder

Participants
Query Drugst.One

Label Type Compact URI Comment
H+ Metabolite chebi:24636
glutamate Metabolite pubchem.compound:33032
aspartate Metabolite chebi:29995
oxaloacetate Metabolite hmdb:HMDB0000223
2-oxoglutarate Metabolite hmdb:HMDB0000208
GOT2 GeneProduct ensembl:ENSG00000125166
SLC25A22 GeneProduct ensembl:ENSG00000177542 Mitochondrial membrane transporter
SLC25A12 GeneProduct ensembl:ENSG00000115840 Mitochondrial membrane transporter
SLC25A13 GeneProduct ensembl:ENSG00000004864 Mitochondrial membrane transporter
GLUD1 GeneProduct ensembl:ENSG00000148672

References

  1. Metabolic reprogramming in triple-negative breast cancer. Wang Z, Jiang Q, Dong C. Cancer Biol Med. 2020 Feb 15;17(1):44–59. PubMed Europe PMC Scholia