MLYCD malonyl-CoA decarboxylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLYCDprovided by HGNC
Official Full Name: malonyl-CoA decarboxylaseprovided by HGNC
Primary source: HGNC:HGNC:7150
See related: Ensembl:ENSG00000103150 MIM:606761; AllianceGenome:HGNC:7150
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCD
Summary: 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]
Expression: Ubiquitous expression in heart (RPKM 24.2), liver (RPKM 11.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (83899115..83927031)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (89964788..89992706)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (83932720..83960636)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

To identify the active site of MCD, molecular docking and molecular dynamics simulations were performed to explore the interactions of human mitochondrial MCD (HmMCD) and CoA derivatives. The findings reveal that the active site of HmMCD indeed resides in the prominent groove which resembles that of curacin A.
Title: Identification of the active site of human mitochondrial malonyl-coenzyme a decarboxylase: A combined computational study.
Our result expands the phenotype of malonyl-CoA decarboxylase deficiency and suggests attentions should be paid to the mild form of disorders, for example, malonyl-CoA decarboxylase deficiency, which usually present a severe disease course.
Title: A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
The MLYCD catalytic domain is structurally homologous to those of the GCN5-related N-acetyltransferase superfamily.
Title: Crystal structures of malonyl-coenzyme A decarboxylase provide insights into its catalytic mechanism and disease-causing mutations.
Structural asymmetry and disulfide bridges among subunits modulate the activity of human malonyl-CoA decarboxylase.
Title: Structural asymmetry and disulfide bridges among subunits modulate the activity of human malonyl-CoA decarboxylase.
Our case emphasizes the need for ongoing cardiac disease screening in patients with MCD deficiency and the benefits and limitations of current dietary interventions.
Title: Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
This study of fatty acid oxidation and malonyl-CoA decarboxylase identifies a critical role for metabolism in both the normal pulmonary circulation (hypoxic pulmonary vasoconstriction) and pulmonary hypertension
Title: Fatty acid oxidation and malonyl-CoA decarboxylase in the vascular remodeling of pulmonary hypertension.
Data suggest that increased expression of malonyl CoA decarboxylase, and the decreased expression of acetyl CoA carboxylase and 5'-AMP activated protein kinase are important regulators of the maturation of fatty acid oxidation in the newborn human heart.
Title: Myocardial hypertrophy and the maturation of fatty acid oxidation in the newborn human heart.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
MCD silencing suppresses lipid uptake and enhances glucose uptake in primary human myotubes.
Title: Malonyl CoenzymeA decarboxylase regulates lipid and glucose metabolism in human skeletal muscle.
analysis of nine novel MLYCD mutations in patients with malonyl-coenzyme A decarboxylase deficiency
Title: Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deficiency of malonyl-CoA decarboxylase MedGen: C0342793 OMIM: 248360 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

G38235 (e-PCR)
- UniSTS:18310

SHGC-60689 (e-PCR)
- UniSTS:20713

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables malonyl-CoA decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables malonyl-CoA decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables malonyl-CoA decarboxylase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetyl-CoA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in acetyl-CoA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in acyl-CoA metabolic process	TAS Traceable Author Statement more info
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid oxidation	IEA Inferred from Electronic Annotation more info
involved_in malonyl-CoA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in malonyl-CoA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fatty acid oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in regulation of glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in peroxisomal matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: malonyl-CoA decarboxylase, mitochondrial

Names: malonyl coenzyme A decarboxylase

NP_036345.2

EC 4.1.1.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.