Cloned (Comment) | Organism |
---|---|
gene MLYCD, localized on chromosome 16q24, DNA and amino acid sequence determination and analysis of the mutant enzyme, sequence comparison | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
H152N | naturally occuring compound heterozygous MLYCD mutation at the N-terminal helical domain | Homo sapiens |
M1K | naturally occuring heterozygous mutation without direct phenotype | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytoplasm | - |
Homo sapiens | 5737 | - |
mitochondrion | - |
Homo sapiens | 5739 | - |
additional information | intracellular mislocalization to the nucleus in M1K/H152N mutant patient, fluorescent immunohistochemic analysis, overview | Homo sapiens | - |
- |
peroxisome | - |
Homo sapiens | 5777 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
55000 | - |
x * 55000 | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
Malonyl-CoA | Homo sapiens | - |
Acetyl-CoA + CO2 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O95822 | gene MLYCD | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
heart | high expression level | Homo sapiens | - |
kidney | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
pancreas | - |
Homo sapiens | - |
skeletal muscle | high expression level | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
Malonyl-CoA | - |
Homo sapiens | Acetyl-CoA + CO2 | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 55000 | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
MLYCD | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | MLYCD deficiency, OMIM 248360, also known as malonic aciduria, is a rare autosomal recessively inherited inborn error of fatty acid metabolism. A patient with this enzyme deficiency shows signs of neonatal hypoglycemia, mental retardation, developmental delay and rheumatoid arthritis. The brain shows patchy, symmetrical hyperintensity of the deep white matter with periventricular white matter and subcortical arcuate fibers being spared. Protein mislocalization to the nucleus is a characteristic feature of MLYCD deficiency in the patient. Phenotype, overview. The phenotype probably involves mutations H152N and M1K | Homo sapiens |
physiological function | the enzyme provides a route for disposal of malonyl-CoA from mitochondria and peroxisomes, whereas in the cytosol the malonyl-CoA pool is regulated by the balance of th enzyme and acetyl-CoA carboxylase activities | Homo sapiens |