Page last updated: 2024-10-06
Refsum Disease
Proteins (6)
| Protein | Synonyms | Taxonomy |
|---|
| Aldehyde dehydrogenase family 3 member A2 | EC 1.2.1.3; EC 1.2.1.94; Aldehyde dehydrogenase 10; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenase | Homo sapiens (human) |
| Very long-chain acyl-CoA synthetase | VLACS; VLCS; EC 6.2.1.-; Arachidonate--CoA ligase; 6.2.1.15; Fatty acid transport protein 2; FATP-2; Fatty-acid-coenzyme A ligase, very long-chain 1; Long-chain-fatty-acid--CoA ligase; 6.2.1.3; Phytanate--CoA ligase; 6.2.1.24; Solute carrier family 27 mem | Homo sapiens (human) |
| Phytanoyl-CoA dioxygenase, peroxisomal | EC 1.14.11.18; Phytanic acid oxidase; Phytanoyl-CoA alpha-hydroxylase; PhyH | Homo sapiens (human) |
| ATP-binding cassette sub-family D member 1 | EC 7.6.2.4; Adrenoleukodystrophy protein; ALDP | Homo sapiens (human) |
| ATP-binding cassette sub-family D member 2 | Adrenoleukodystrophy-like 1; Adrenoleukodystrophy-related protein; hALDR | Homo sapiens (human) |
| 2-hydroxyacyl-CoA lyase 1 | EC 4.1.2.n2; 2-hydroxyphytanoyl-CoA lyase; 2-HPCL; Phytanoyl-CoA 2-hydroxylase 2 | Homo sapiens (human) |
Compounds (18)
| Compound | Description |
|---|
| succinic acid | A water-soluble, colorless crystal with an acid taste that is used as a chemical intermediate, in medicine, the manufacture of lacquers, and to make perfume esters. It is also used in foods as a sequestrant, buffer, and a neutralizing agent. (Hawley's Condensed Chemical Dictionary, 12th ed, p1099; McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1851) |
| Carbon Dioxide | A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals. |
| NADH | |
| Adenosine Triphosphate | An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter. |
| adenosine diphosphate | Adenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position. |
| Water | A clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed) |
| Oxygen | An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration. |
| Coenzyme A | |
| formyl-coenzyme A | |
| phytanoyl-coenzyme a | |
| pristanic acid | |
| pristanal | structure given in first source |
| isobutyryl-coenzyme a | |
| alpha-ketoglutaric acid | |
| NAD | A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed) |
| phytanic acid | A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency. |
| acetyl coenzyme a | Acetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent. |
| pyrophosphate | |