MLYCD (malonyl-CoA decarboxylase)

2014-08-01 Affiliation

Identity

HGNC

MLYCD

LOCATION

16q23.3

LOCUSID

23417

ALIAS

MCD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23417
MIM: 606761
HGNC: 7150
Ensembl: ENSG00000103150

Variants:

dbSNP: 23417
ClinVar: 23417
TCGA: ENSG00000103150
COSMIC: MLYCD

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000103150	ENST00000262430	O95822
ENSG00000103150	ENST00000561562	A0A087X1B8
ENSG00000103150	ENST00000563312	V9GYW3
ENSG00000103150	ENST00000566309	V9GY18

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
beta-Alanine metabolism	KEGG	ko00410
Propanoate metabolism	KEGG	ko00640
beta-Alanine metabolism	KEGG	hsa00410
Propanoate metabolism	KEGG	hsa00640
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146
Metabolic pathways	KEGG	hsa01100
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Peroxisomal lipid metabolism	REACTOME	R-HSA-390918

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA33744	PRKAA1	Gene	Pathway	associated	22722338
PA33745	PRKAA2	Gene	Pathway	associated	22722338
PA33746	PRKAB1	Gene	Pathway	associated	22722338
PA33747	PRKAB2	Gene	Pathway	associated	22722338
PA33751	PRKAG1	Gene	Pathway	associated	22722338
PA33752	PRKAG2	Gene	Pathway	associated	22722338
PA33753	PRKAG3	Gene	Pathway	associated	22722338

References

Pubmed ID	Year	Title	Citations
20702857	2010	Fatty acid oxidation and malonyl-CoA decarboxylase in the vascular remodeling of pulmonary hypertension.	65
18314420	2008	Malonyl CoenzymeA decarboxylase regulates lipid and glucose metabolism in human skeletal muscle.	28
18660489	2008	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	26
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
16434556	2006	Exercise training decreases the concentration of malonyl-CoA and increases the expression and activity of malonyl-CoA decarboxylase in human muscle.	13
12955715	2003	MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.	9
18614968	2008	Myocardial hypertrophy and the maturation of fatty acid oxidation in the newborn human heart.	9
17186413	2007	Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.	8
23791943	2013	Crystal structures of malonyl-coenzyme A decarboxylase provide insights into its catalytic mechanism and disease-causing mutations.	6
23482565	2013	Structural asymmetry and disulfide bridges among subunits modulate the activity of human malonyl-CoA decarboxylase.	3

Citation

Dessen P

MLYCD (malonyl-CoA decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54463/mlycd