ACMSD: Aminocarboxymuconate Semialdehyde Decarboxylase
Key enzyme in tryptophan metabolism and NAD+ biosynthesis
Gene Information Card
| Symbol | ACMSD |
|---|---|
| Full Name | Aminocarboxymuconate Semialdehyde Decarboxylase |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q21.3 |
| NCBI Gene ID | 130013 ncbi.nlm.nih.gov/gene/130013 |
| Ensembl ID | ENSG00000163082 |
| UniProt ID | Q8TDX5 |
| OMIM ID | 608889 |
| HGNC ID | 24038 |
| Aliases | ACMSD1, MGC14130 |
Description
ACMSD encodes aminocarboxymuconate semialdehyde decarboxylase, a key enzyme in the kynurenine pathway of tryptophan metabolism. It catalyzes the decarboxylation of 2-amino-3-carboxymuconate semialdehyde to 2-aminomuconate semialdehyde, diverting metabolites away from quinolinic acid production and thus regulating de novo NAD+ biosynthesis. ACMSD is highly expressed in kidney and liver, and its activity influences cellular NAD+ levels and redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NAD+ deficiency disorders | Reduced ACMSD activity leads to increased quinolinic acid and decreased NAD+ synthesis | ClinVar, OMIM |
| Chronic kidney disease | Altered tryptophan metabolism via ACMSD dysregulation contributes to renal fibrosis | PubMed, NCBI |
| Neurodegenerative conditions | Imbalance in kynurenine pathway metabolites, including quinolinic acid, linked to excitotoxicity | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.8 | High |
| Liver | 9.5 | Medium |
| Small intestine | 4.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HepG2 | 8.7 | Moderate expression |
| SH-SY5Y | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare | Reduced enzyme activity |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Impaired decarboxylase function |
| c.832_833del (p.Leu278fs) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish decarboxylase activity, leading to accumulation of upstream metabolites and decreased NAD+ synthesis.
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)
| • GO:0004066 (aspartate decarboxylase activity) | • GO:0016831 (carboxy-lyase activity) |
| • GO:0006520 (cellular amino acid metabolic process) | • GO:0034354 (NAD+ biosynthetic process) |
| • GO:0005737 (cytoplasm) |
Pathways
• Kynurenine pathway (tryptophan degradation)
• NAD+ biosynthesis (de novo pathway)
Protein Summary
ACMSD is a 336-amino acid protein that belongs to the aspartate decarboxylase family. It functions as a homodimer and requires pyridoxal phosphate as a cofactor. The enzyme is primarily cytosolic and plays a critical role in regulating the flux of tryptophan catabolites toward NAD+ production versus quinolinic acid formation. Structural studies reveal a conserved active site essential for decarboxylase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACMSD Knockout HEK293 Cell Line | EDJ-KQ9228 | Human | 130013 | Details Get a Quote |
| ACMSD Knockout HeLa Cell Line | EDJ-KQ58271 | Human | 130013 | Details Get a Quote |
| ACMSD Knockout A-549 Cell Line | EDJ-KQ66759 | Human | 130013 | Details Get a Quote |
| ACMSD Knockout HCT 116 Cell Line | EDJ-KQ75166 | Human | 130013 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
