Human Gene ACSF3 (uc010cih.2) Description and Page Index
Description: Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), transcript variant 3, non-coding RNA. RefSeq Summary (NM_174917): 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]. Transcript (Including UTRs) Position: hg19 chr16:89,160,217-89,222,171 Size: 61,955 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr16:89,169,141-89,220,615 Size: 51,475 Coding Exon Count: 8
ID:ACSF3_HUMAN DESCRIPTION: RecName: Full=Acyl-CoA synthetase family member 3, mitochondrial; EC=6.2.1.-; Flags: Precursor; FUNCTION: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in ACSF3 are the cause of combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]. A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. SIMILARITY: Belongs to the ATP-dependent AMP-binding enzyme family. SEQUENCE CAUTION: Sequence=AAH72391.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Genetic Association Studies of Complex Diseases and Disorders
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q4G176
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.