DMAC2L
Distal Membrane Arm Assembly Complex Component 2 Like
Gene Information Card
| Symbol | DMAC2L |
|---|---|
| Full Name | Distal Membrane Arm Assembly Complex Component 2 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 619267 |
| HGNC ID | 37247 |
| Aliases | MGC16384, C14orf102, DMAC2L1 |
Description
DMAC2L (Distal Membrane Arm Assembly Complex Component 2 Like) encodes a protein involved in the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It is a component of the distal membrane arm assembly complex, which facilitates the incorporation of the distal membrane arm into the holoenzyme. The gene is located on chromosome 14q32.33 and is expressed in various tissues, with highest levels in heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 39 | Loss-of-function mutations in DMAC2L impair complex I assembly, leading to reduced oxidative phosphorylation. | ClinVar, OMIM |
| Leigh syndrome | Biallelic pathogenic variants in DMAC2L cause early-onset Leigh-like encephalopathy with complex I deficiency. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 8.3 | Medium |
| Liver | 4.1 | Low |
| Brain | 3.2 | Low |
| Kidney | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.6 | Moderate expression |
| HeLa | 3.8 | Low expression |
| SH-SY5Y | 4.2 | Low expression |
| HepG2 | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.416G>A (p.Arg139Gln) | Missense | Rare | Likely damaging; impairs complex I assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to complete loss of DMAC2L function, causing complex I deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex I assembly | • mitochondrion |
| • protein-containing complex binding |
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
Protein Summary
DMAC2L is a 145-amino acid protein localized to the mitochondrial inner membrane. It acts as a chaperone-like factor in the assembly of the distal membrane arm of complex I, interacting with other assembly factors such as DMAC1 and NDUFAF2. The protein contains a conserved domain of unknown function (DUF) and is essential for proper oxidative phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMAC2L Knockout HEK293 Cell Line | EDJ-KQ8681 | Human | 27109 | Details Get a Quote |
| DMAC2L Knockout A-549 Cell Line | EDJ-KQ34881 | Human | 27109 | Details Get a Quote |
| DMAC2L Knockout HCT 116 Cell Line | EDJ-KQ34882 | Human | 27109 | Details Get a Quote |
| DMAC2L Knockout HeLa Cell Line | EDJ-KQ34883 | Human | 27109 | Details Get a Quote |
