Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23417 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Malonyl-CoA decarboxylase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MLYCD |
SynonymsGene synonyms aliases
|
MCD |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16q23.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 pr |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28937908 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs104894528 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs121908081 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs138675420 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant, missense variant |
rs201973830 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs374073138 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs398124254 |
->TGAAGC |
Pathogenic |
Coding sequence variant, inframe insertion |
rs761146008 |
A>G |
Pathogenic |
Intron variant |
rs796051991 |
G>- |
Pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
rs962135951 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs1064794623 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1294168838 |
GAGT>- |
Pathogenic |
Splice donor variant, coding sequence variant |
rs1567636915 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
PPARA |
Unknown |
16434556 |
PPARGC1A |
Unknown |
16434556 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O95822 |
Protein name |
Malonyl-CoA decarboxylase, mitochondrial (MCD) (EC 4.1.1.9) |
Protein function |
Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acid |
PDB |
2YGW
,
4F0X
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17408 |
MCD_N |
95 → 190 |
Malonyl-CoA decarboxylase N-terminal domain |
Domain |
PF05292 |
MCD |
193 → 457 |
Malonyl-CoA decarboxylase C-terminal domain |
Domain |
|
Sequence |
|
Sequence length |
493 |
Interactions |
View interactions |