MLYCD Chromosome 16
Malonyl-CoA decarboxylase
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What This Gene Does
The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Deficiency of malonyl-CoA decarboxylase
MLYCD-related disorder
Inborn genetic diseases
Intellectual disability
Sarcoma
Familial cancer of breast
Key Variants
RS121908081
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS138675420
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS146465073
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Inborn genetic diseases, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS199549095
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS200278015
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS200413924
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Inborn genetic diseases, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS200841672
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS370278897
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS373675093
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS374073138
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS375935118
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
RS376948469
Conflicting classifications of pathogenicity
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2507380738 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507380841 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507382078 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507382113 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507382189 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507382260 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507382391 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507387531 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS2507387607 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS28937908 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS398124254 | Health Risk | Pathogenic | — |
| RS528074239 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS750150415 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS755172155 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS757983774 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS761146008 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Sarcoma, Deficiency of malonyl-CoA decarboxylase |
| RS768903353 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS775425515 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS777414552 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Familial cancer of breast, Deficiency of malonyl-CoA decarboxylase |
| RS796051991 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS938617354 | Health Risk | Pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS962135951 | Health Risk | Pathogenic | — |
| RS1179555424 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder, Deficiency of malonyl-CoA decarboxylase |
| RS759043861 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS760768992 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS987846203 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |