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Literature summary for 4.1.1.9 extracted from

  • Polinati, P.P.; Valanne, L.; Tyni, T.
    Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations (2015), Brain Dev., 37, 107-113.
    View publication on PubMed

Cloned(Commentary)

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

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

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 [Da] Molecular Weight Maximum [Da] Comment Organism
55000
-
x * 55000 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
Malonyl-CoA Homo sapiens
-
Acetyl-CoA + CO2
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens O95822 gene MLYCD
-

Source Tissue

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 and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Malonyl-CoA
-
Homo sapiens Acetyl-CoA + CO2
-
?

Subunits

Subunits Comment Organism
? x * 55000 Homo sapiens

Synonyms

Synonyms Comment Organism
MLYCD
-
Homo sapiens

General Information

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