Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway (Homo sapiens)
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Description
Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term for 12 disease subtypes, all characterized by the build-up of iron within the brain. One of these subtypes is beta-propeller protein-associated neurodegeneration (BPAN) caused by a mutation in the WDR45 gene. This protein is involved in the autophagy pathway; the exact mechanism is still unknown. Other NBIA subtypes are PKAN, CoPAN, and FAHN. PKAN and CoPAN are involved in Coenzyme A synthesis within mitochondria and FAHN is found in myelin synthesis. Dysfunctioning of these pathways leads to a phenotype characterized by developmental delay and intellectual disabilities. Nevertheless, the exact relation between mutation and phenotype remains unknown.
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Annotated Interactions
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Source | Target | Type | Database reference | Comment |
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(R)-4'- phosphopantothenate | N-[(R)-4'-Phospho pantothenoyl]-L-cysteine | mim-conversion | 25156 (Rhea) ![]() | |
(R)-pantothenate | (R)-4'- phosphopantothenate | mim-conversion | 16374 (Rhea) ![]() | Phosphorylation |
1,2-saturated fatty acid | (2R)-2-hydroxy fatty acid anion | mim-conversion | 38855 (Rhea) ![]() | |
3'-dephospho -CoA | Coenzyme A | mim-conversion | 18246 (Rhea) ![]() | |
Acetyl-CoA | Malonyl-CoA | mim-conversion | 18818 (Rhea) ![]() | |
D-pantetheine 4'-phosphate | 3'-dephospho -CoA | mim-conversion | 19802 (Rhea) ![]() | |
N-[(R)-4'-Phospho pantothenoyl]-L-cysteine | D-pantetheine 4'-phosphate | mim-conversion | 16793 (Rhea) ![]() | |
Palmitoyl-CoA | L-serine | 14761 (Rhea) ![]() |