ACAD11: Acyl-CoA Dehydrogenase Family Member 11
Gene encoding a mitochondrial enzyme involved in fatty acid beta-oxidation and branched-chain amino acid catabolism.
Gene Information Card
| Symbol | ACAD11 |
|---|---|
| Full Name | acyl-CoA dehydrogenase family member 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 84129 ncbi.nlm.nih.gov/gene/84129 |
| Ensembl ID | ENSG00000114771 |
| UniProt ID | Q709F0 |
| OMIM ID | 611181 |
| HGNC ID | 21142 |
| Aliases | FLJ10895, MGC131738 |
Description
ACAD11 (acyl-CoA dehydrogenase family member 11) encodes a mitochondrial enzyme belonging to the acyl-CoA dehydrogenase family. It catalyzes the initial step of fatty acid beta-oxidation and is also involved in the catabolism of branched-chain amino acids. The protein is expressed in various tissues, with highest levels in liver and kidney. Mutations in ACAD11 have been associated with metabolic disorders, including ACAD11 deficiency, which presents with developmental delay and hypotonia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| ACAD11 deficiency | Loss-of-function mutations impair fatty acid oxidation and branched-chain amino acid catabolism, leading to accumulation of toxic metabolites. | ClinVar, OMIM |
| Developmental delay with hypotonia | Biallelic pathogenic variants in ACAD11 disrupt mitochondrial energy metabolism, affecting neurological development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Heart | 6.8 | Medium |
| Skeletal Muscle | 5.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| SH-SY5Y | 4.2 | Neuroblastoma cell line |
| HeLa | 3.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | Rare | Loss of function; associated with ACAD11 deficiency |
| c.1286G>A (p.Arg429Gln) | Missense | Rare | Likely pathogenic; reduced enzyme activity |
| c.1543_1544del (p.Leu515ValfsTer2) | Frameshift | Rare | Loss of function; truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense variants that reduce or abolish enzyme activity are associated with ACAD11 deficiency and developmental delay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACAD11.
Dominant Negative (DN)
No dominant-negative mutations have been described for ACAD11.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA dehydrogenase activity | • GO:0005739 - mitochondrion |
| • GO:0055114 - oxidation-reduction process | • GO:0006635 - fatty acid beta-oxidation |
| • GO:0009083 - branched-chain amino acid catabolic process |
Pathways
• Fatty acid beta-oxidation (mitochondrial)
• Branched-chain amino acid catabolism (valine
• leucine
• isoleucine degradation)
Protein Summary
ACAD11 is a 615-amino acid mitochondrial protein that functions as a homotetrameric acyl-CoA dehydrogenase. It catalyzes the alpha,beta-dehydrogenation of acyl-CoA esters, transferring electrons to electron-transferring flavoprotein (ETF). The enzyme has broad substrate specificity, acting on medium- to long-chain fatty acyl-CoAs and branched-chain acyl-CoAs. Defects in ACAD11 lead to accumulation of specific acylcarnitines and organic acids, causing metabolic crisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAD11 Knockout HEK293 Cell Line | EDJ-KQ9989 | Human | 84129 | Details Get a Quote |
| ACAD11 Knockout A-549 Cell Line | EDJ-KQ36936 | Human | 84129 | Details Get a Quote |
| ACAD11 Knockout HCT 116 Cell Line | EDJ-KQ36937 | Human | 84129 | Details Get a Quote |
| ACAD11 Knockout HeLa Cell Line | EDJ-KQ36938 | Human | 84129 | Details Get a Quote |
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