GENE REFERENCE / HGNC:91

ACADSB

acyl-CoA dehydrogenase short/branched chain

protein-coding gene10q26.13Gene information

What does this gene do?

The ACADSB gene provides instructions for making an enzyme called short/branched chain acyl-CoA dehydrogenase (SBCAD, also known as 2-methylbutyryl-CoA dehydrogenase), which plays an important role in processing proteins. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. In cells throughout the body, SBCAD is found within specialized structures called mitochondria. Mitochondria convert energy from food into a form that cells can use.

The SBCAD enzyme helps break down a particular amino acid called isoleucine. Specifically, this enzyme helps with the third step of the process, performing a chemical reaction that converts a molecule called 2-methylbutyryl-CoA to another molecule, tiglyl-CoA. Additional chemical reactions convert tiglyl-CoA into molecules that are used for energy. Through similar chemical reactions, the SBCAD enzyme also aids in the breakdown of other amino acids.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2007-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
2-methylbutyryl-CoA dehydrogenase deficiencyMONDO:0012392 · Evaluated 2019-03-22	Autosomal recessive	DefinitiveAminoacidopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 424
Submissions for variants in or overlapping this gene: 673
Submissions explicitly reporting this gene: 610
Alleles reported pathogenic / likely pathogenic: 49
VariationIDs with uncertain significance: 155
VariationIDs with conflicting classifications: 20

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ACADSB?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 49 alleles in ACADSB reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ACADSB.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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