ACADSB Antibody

1. the c.1165 A>G mutation before knowing whether the optimal screening cut-off would minimize true positives or false negatives for SBCADD associated with this mutation. PMID: 23712021
2. Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients PMID: 22277967
3. These findings confirm that SBCAD deficiency can be identified through newborn screening by acylcarnitine analysis. PMID: 20547083
4. Differences between the rat and human enzyme at positions 383, 222, and 220 alter substrate specificity without affecting substrate binding. PMID: 12855692
5. Identification and characterization of an IVS3+3A>G mutation (c.303+3A>G) in the SBCAD gene, and provide evidence that this mutation is disease-causing. PMID: 16317551
6. Results examine the mechanistic basis for dysfunction of the common variant short-chain acyl-CoA dehydrogenases and demonstrate that mutations can have a large impact on the redox properties of the enzyme. PMID: 16331963
7. Results indicate that substrate redox activation occurs in short-chain acyl-CoA dehydrogenase leading to a large enzyme midpoint potential shift. PMID: 16331964

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HGNC: 91

OMIM: 600301

KEGG: hsa:36

STRING: 9606.ENSP00000357873

UniGene: Hs.81934