ACADSB

Chr 10

acyl-CoA dehydrogenase short/branched chain

Also known as: 2-MEBCAD, ACAD7, SBCAD

NCBI Gene: 36ENSG00000196177UniProt: P45954

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtShort/branched-chain acyl-CoA dehydrogenase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
2-methylbutyryl-CoA dehydrogenase deficiency · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 0.91
OE 0.80 (0.56–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.07Z-score
OE missense 1.01 (0.91–1.13)
230 obs / 227.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.56–1.17)
0≤0.351.4
Missense OE?1.01 (0.91–1.13)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 19 / 23.8Missense obs/exp: 230 / 227.0Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACADSB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients