ACADSB Chromosome 10
Acyl-CoA dehydrogenase short/branched chain
Upload your DNA to see your personal genotypes for variants in ACADSB.
What This Gene Does
Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
10q26.13
Ensembl
ENSG00000196177
Associated Conditions (7)
Deficiency of 2-methylbutyryl-CoA dehydrogenase
ACADSB-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
See cases
Sarcoma
Ovarian serous cystadenocarcinoma
Key Variants
RS140747102
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS142095937
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS147531541
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS147936696
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS148640214
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS150034487
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS150619709
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS199963793
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS200154326
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS202191462
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS58639322
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
RS747291865
Conflicting classifications of pathogenicity
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140747102 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS142095937 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS147531541 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS147936696 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS148640214 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS150034487 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS150619709 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS199963793 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS200154326 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS202191462 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS58639322 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS747291865 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS748185849 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS756256851 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS760423996 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Clear cell carcinoma of kidney, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS770827167 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS770933347 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS886046780 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS886046781 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS1228768873 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS1564754571 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS1850369146 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS1850655600 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS2133484638 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS2493660060 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS2493665132 | Health Risk | Likely pathogenic | ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder |
| RS764524104 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS779015128 | Health Risk | Likely pathogenic | See cases, Deficiency of 2-methylbutyryl-CoA dehydrogenase, See cases |
| RS943046481 | Health Risk | Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS1214542902 | Health Risk | Pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS137852649 | Health Risk | Pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS1443718162 | Health Risk | Pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS201877440 | Health Risk | Pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS2493648846 | Health Risk | Pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS749878139 | Health Risk | Pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS761798774 | Health Risk | Pathogenic | ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder |
| RS1345480688 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS188094280 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Sarcoma, Ovarian serous cystadenocarcinoma |
| RS2133480858 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS374420253 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS387906409 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS553730391 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS755014798 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS756587384 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, See cases, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS760791287 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS770456976 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |