Disorders of NAD metabolism (WP5506)

Homo sapiens

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Disorders of Niacin and NAD Metabolism

Authors

Mareknoga 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

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
NAD(+) Metabolite chebi:15846
deamido-NAD(+) Metabolite chebi:18304 nicotinate adenine dinucleotide
NADH Metabolite chebi:16908
(S)-NADHX Metabolite chebi:44236
(R)-NADHX Metabolite chebi:134125
cyclo-NADHX Metabolite inchikey:XHATZBPBVXWMQQ-GGFUHNOESA-N SMILES NC(=O)C1=CN2C(CC1)OC1C2O[C@H](COP(=O)(O)OP(=O)(O)OC[C@H]2O[C@@H](n3cnc4c(N)ncnc43)[C@H](O)[C@@H]2O)[C@H]1O
nicotamide Metabolite chebi:17154 nicotinate adenine dinucleotide
ADP-D-ribose Metabolite chebi:16960 nicotinate adenine dinucleotide
cyclic ADP-D-ribose Metabolite chebi:31445 nicotinate adenine dinucleotide
NMN(+) Metabolite chebi:14648 nicotinate mononucleotide
NAD(P)HX epimerase GeneProduct ensembl:ENSG00000163382
NADSYNTHETASE 1 GeneProduct ensembl:ENSG00000172890
NAD(P)HX DEHYDRATASE GeneProduct ensembl:ENSG00000213995
CD38 GeneProduct ensembl:ENSG00000004468
BST GeneProduct ensembl:ENSG00000109743

References

  1. Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration. Acheson SA, Kirkman HN, Wolfenden R. Biochemistry. 1988 Sep 20;27(19):7371–5. PubMed Europe PMC Scholia
  2. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, et al. Brain. 2019 Jan 1;142(1):50–8. PubMed Europe PMC Scholia
  3. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, et al. Am J Hum Genet. 2020 Jan 2;106(1):129–36. PubMed Europe PMC Scholia
  4. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, et al. Mol Genet Metab. 2022 Jun;136(2):101–10. PubMed Europe PMC Scholia