ACSF3
Sign in to saveAlso known as acyl-CoA synthetase family member 3
Acyl-CoA synthetase family member 3 (ACSF3) is a mitochondrial enzyme encoded by the ACSF3 gene. It is required for the degradation of malonic acid and methylmalonic acid and provides the precursor for mitochondrial fatty acid synthesis (mtFAS) and mitochondrial lysine malonylation. The enzyme belongs to the acyl-CoA synthetase family.
Gene data
ACSF3- Name
- acyl-CoA synthetase family member 3
- Type
- protein-coding
- Position
- 89,088,375–89,164,121 (+)
- Ensembl
- ENSG00000176715
- RefSeq RNA
- NM_001127214.4, NM_001243279.3, NM_001284316.2, NM_174917.5, NR_045666.1
- RefSeq protein
- NP_001120686.1, NP_001230208.1, NP_001271245.1, NP_777577.2
This gene encodes a member of the acyl-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. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
acyl-CoA synthetase family member 3
- Symbol
- ACSF3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:89,088,375-89,164,121
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 14958
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/197322
- genomic end
- 89164121
- genomic start
- 89154783
- chromosome
- human chromosome 16
- cytogenetic location
- 16q24.3
- genetic association
- combined malonic and methylmalonic acidemia
- expressed in
- appendix
Sources (7)
via Wikidata · CC0
~12 min read
Encyclopedic overview
23 sectionsContents
- Structure
- Isoform 1
- Isoform 2
- Reaction
- Function
- Degradation of malonic acid
- Degradation of methylmalonic acid
- Synthesis of mitochondrial malonyl-CoA
- Mitochondrial fatty acid synthesis (mtFAS)
- Lysine malonylation
- Synthesis of acetyl-CoA
- Synthesis of mitochondrial methylmalonyl-CoA
- Synthesis of succinyl-CoA
- Lysine methylmalonylation
- Clinical significance
- Combined malonic and methylmalonic aciduria (CMAMMA)
- Chronic obstructive pulmonary disease (COPD)
- Metabolic dysfunction-associated steatotic liver disease (MASLD)
- Evolutionary role
- See also
- References
- Further reading
- External links
Acyl-CoA synthetase family member 3 (ACSF3) is a mitochondrial enzyme encoded by the ACSF3 gene. It is required for the degradation of malonic acid and methylmalonic acid and provides the precursor for mitochondrial fatty acid synthesis (mtFAS) and mitochondrial lysine malonylation. The enzyme belongs to the acyl-CoA synthetase family.
== Structure == The ACSF3 gene is located on chromosome 16, at locus q24.3. It comprises 14 exons and produces four alternatively spliced mRNAs that encode two isoforms of the ACSF3 protein:
Excerpted from Wikipedia’s “ACSF3” article, available under the CC BY-SA 4.0 licence.