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 , Egon Willighagen , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Serious Request 2024 - MetaKids

Annotations

Disease Ontology

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

Pathway Ontology

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

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