ACSF3

Last updated
ACSF3
Identifiers
Aliases ACSF3 , acyl-CoA synthetase family member 3
External IDs OMIM: 614245 MGI: 2182591 HomoloGene: 14958 GeneCards: ACSF3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127214
NM_001243279
NM_001284316
NM_174917

NM_144932

RefSeq (protein)

NP_001120686
NP_001230208
NP_001271245
NP_777577

NP_659181

Location (UCSC) Chr 16: 89.09 – 89.16 Mb Chr 8: 122.78 – 122.82 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ACSF3 gene. [5]

Contents

Structure

The ACSF3 gene is located on the 16th chromosome, with its specific location being 16q24.3. The gene contains 17 exons. [5] ASCL4 encodes a 64.1 kDa protein that is composed of 576 amino acids; 20 peptides have been observed through mass spectrometry data. [6] [7]

Function

This gene encodes a member of the acetyl—CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. [5]

Clinical significance

Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria (CMAMMA). [8] CMAMMA is a condition characterized by high levels of malonic acid and methylmalonic acid, because deficiencies in this gene cause these metabolites to not be broken down. The disease is typically diagnosed by either genetic testing or higher levels of methylmalonic acid than malonic acid, although both are elevated. By calculating the malonic acid to methylmalonic acid ratio in blood plasma, CMAMMA can be distinguished from classic methylmalonic acidemia. [9] The disorder typically presents symptoms early in childhood, first starting with high levels of acid in the blood (ketoacidosis). The disorder can also present as involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children can even have microcephaly. Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases. [5]

Related Research Articles

<span class="mw-page-title-main">Methylmalonic acidemia</span> Medical condition

Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.

<span class="mw-page-title-main">Malonyl-CoA</span> Chemical compound

Malonyl-CoA is a coenzyme A derivative of malonic acid.

<span class="mw-page-title-main">ACADVL</span> Protein-coding gene in the species Homo sapiens

Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (VLCAD) is an enzyme that in humans is encoded by the ACADVL gene.

<span class="mw-page-title-main">ACADM</span> Mammalian protein found in Homo sapiens

ACADM is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down (degrading) a certain group of fats called medium-chain fatty acids.

<span class="mw-page-title-main">Malonyl-CoA decarboxylase deficiency</span> Medical condition

Malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts the activity of Malonyl-CoA decarboxylase. This enzyme breaks down Malonyl-CoA into acetyl-CoA and carbon dioxide.

<span class="mw-page-title-main">ACADS</span> Protein-coding gene in humans

Acyl-CoA dehydrogenase, C-2 to C-3 short chain is an enzyme that in humans is encoded by the ACADS gene. This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. The ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

<span class="mw-page-title-main">Malonyl-CoA decarboxylase</span> Class of enzymes

Malonyl-CoA decarboxylase, is found in bacteria and humans and has important roles in regulating fatty acid metabolism and food intake, and it is an attractive target for drug discovery. It is an enzyme associated with Malonyl-CoA decarboxylase deficiency. In humans, it is encoded by the MLYCD gene.

<span class="mw-page-title-main">Methylmalonyl-CoA</span> Chemical compound

Methylmalonyl-CoA is the thioester consisting of coenzyme A linked to methylmalonic acid. It is an important intermediate in the biosynthesis of succinyl-CoA, which plays an essential role in the tricarboxylic acid cycle. The compound is sometimes referred to as "methylmalyl-CoA".

<span class="mw-page-title-main">HADHB</span> Protein-coding gene in the species Homo sapiens

Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene.

<span class="mw-page-title-main">ACSL1</span> Protein-coding gene in the species Homo sapiens

Long-chain-fatty-acid—CoA ligase 1 is an enzyme that in humans is encoded by the ACSL1 gene.

<span class="mw-page-title-main">ACSL5</span> Protein-coding gene in the species Homo sapiens

Long-chain-fatty-acid—CoA ligase 5 is an enzyme that in humans is encoded by the ACSL5 gene.

<span class="mw-page-title-main">ACSL4</span> Protein-coding gene in humans

Long-chain-fatty-acid—CoA ligase 4 is an enzyme that in humans is encoded by the ACSL4 gene.

<span class="mw-page-title-main">Very long-chain acyl-CoA synthetase</span> Protein-coding gene in the species Homo sapiens

Very long-chain acyl-CoA synthetase is an enzyme that in humans is encoded by the SLC27A2 gene.

<span class="mw-page-title-main">SLC27A5</span> Protein-coding gene in the species Homo sapiens

Bile acyl-CoA synthetase is an enzyme that in humans is encoded by the SLC27A5 gene.

<span class="mw-page-title-main">SLC27A6</span> Protein-coding gene in the species Homo sapiens

Long-chain fatty acid transport protein 6 is a protein that in humans is encoded by the SLC27A6 gene.

<span class="mw-page-title-main">Hydroxyacyl-Coenzyme A dehydrogenase</span> Protein-coding gene in the species Homo sapiens

Hydroxyacyl-Coenzyme A dehydrogenase (HADH) is an enzyme which in humans is encoded by the HADH gene.

<span class="mw-page-title-main">ACOT13</span> Protein-coding gene in the species Homo sapiens

Acyl-CoA thioesterase 13 is a protein that in humans is encoded by the ACOT13 gene. This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation.

<span class="mw-page-title-main">ACOT1</span> Protein-coding gene in the species Homo sapiens

Acyl-CoA thioesterase 1 is a protein that in humans is encoded by the ACOT1 gene.

<span class="mw-page-title-main">ACSS3</span> Protein-coding gene in humans

Acyl-CoA synthetase short-chain family member 3 is a protein that in humans is encoded by the ACSS3 gene.

Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid. Some researchers have hypothesized that CMAMMA might be one of the most common forms of methylmalonic acidemia, and possibly one of the most common inborn errors of metabolism. Due to being infrequently diagnosed, it most often goes undetected.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000176715 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000015016 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 4 "Entrez Gene: Acyl-CoA synthetase family member 3" . Retrieved 2011-12-30.
  6. Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–1053. doi:10.1161/CIRCRESAHA.113.301151. PMC   4076475 . PMID   23965338.
  7. "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).[ permanent dead link ]
  8. Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, et al. (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal of Medical Genetics. 48 (9): 602–605. doi: 10.1136/jmedgenet-2011-100230 . PMID   21785126.
  9. de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, et al. (2016). Morava E, Baumgartner M, Patterson M, Shamima R (eds.). "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports. Berlin, Heidelberg: Springer. 30: 15–22. doi:10.1007/8904_2016_531. ISBN   978-3-662-53681-0. PMC   5110436 . PMID   26915364.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.