ALDH1L2 Gene - Aldehyde Dehydrogenase 1 Family Member L2
A key enzyme in folate metabolism and one-carbon transfer pathways
Gene Information Card
| Symbol | ALDH1L2 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 1 Family Member L2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 160428 ncbi.nlm.nih.gov/gene/160428 |
| Ensembl ID | ENSG00000136010 |
| UniProt ID | Q3SY69 |
| OMIM ID | 614974 |
| HGNC ID | 28253 |
| Aliases | 10-FTHFDH, FDH, FTHFDH |
Description
ALDH1L2 encodes a member of the aldehyde dehydrogenase family that catalyzes the conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2, playing a critical role in one-carbon metabolism and folate homeostasis. The enzyme is mitochondrial and is involved in purine biosynthesis and redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered folate metabolism may promote tumorigenesis; ALDH1L2 expression is dysregulated in some cancers. | PubMed studies show reduced expression in colorectal tumors (PMID: 23455423). |
| Breast Cancer | Loss of ALDH1L2 may contribute to metabolic reprogramming in cancer cells. | COSMIC reports somatic mutations in breast cancer samples. |
| Neural Tube Defects | Deficiency in folate metabolism genes is a risk factor. | OMIM notes association with folate-dependent pathways. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 5.1 | Medium |
| Brain | 2.0 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| MCF7 | 3.4 | Breast cancer cell line |
| A549 | 2.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1522G>A (p.Gly508Ser) | Missense | <0.01% | Likely benign |
| c.1745_1746del (p.Leu582fs) | Frameshift | <0.01% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0016155 - formyltetrahydrofolate dehydrogenase activity |
| • GO:0005739 - mitochondrion | • GO:0006730 - one-carbon metabolic process |
| • GO:0006164 - purine nucleotide biosynthetic process |
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• One-carbon metabolism (KEGG: hsa00670)
• Purine metabolism (KEGG: hsa00230)
Protein Summary
ALDH1L2 is a mitochondrial aldehyde dehydrogenase that catalyzes the NADP+-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2. This reaction is essential for one-carbon transfer reactions, including purine synthesis and methylation. The protein is 902 amino acids long and contains a formyltransferase domain and an aldehyde dehydrogenase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH1L2 Knockout HEK293 Cell Line | EDJ-KQ12327 | Human | 160428 | Details Get a Quote |
| ALDH1L2 Knockout A-549 Cell Line | EDJ-KQ41171 | Human | 160428 | Details Get a Quote |
| ALDH1L2 Knockout HeLa Cell Line | EDJ-KQ41172 | Human | 160428 | Details Get a Quote |
| ALDH1L2 Knockout HCT 116 Cell Line | EDJ-KQ75698 | Human | 160428 | Details Get a Quote |
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