ALDH3A2
Aldehyde Dehydrogenase 3 Family Member A2
Gene Information Card
| Symbol | ALDH3A2 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 3 Family Member A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 224 ncbi.nlm.nih.gov/gene/224 |
| Ensembl ID | ENSG00000172210 |
| UniProt ID | P51648 |
| OMIM ID | 600234 |
| HGNC ID | 403 |
| Aliases | FALDH, SLS, ALDH10, ALDH3A2P |
Description
ALDH3A2 encodes fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. It is critical for the metabolism of fatty alcohols, leukotriene B4, and phytanic acid. Mutations in this gene cause Sjögren-Larsson syndrome (SLS), an autosomal recessive disorder characterized by ichthyosis, intellectual disability, and spasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren-Larsson Syndrome | Loss-of-function mutations in ALDH3A2 impair fatty aldehyde oxidation, leading to accumulation of long-chain aldehydes and alcohols. | OMIM #270200; ClinVar; multiple case reports |
| Ichthyosis, Spastic Quadriplegia, and Intellectual Disability | Same mechanism as SLS; phenotypic variation due to residual enzyme activity. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte-derived |
| HaCaT | 15.8 | Keratinocyte-derived |
| SH-SY5Y | 4.3 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.943C>T (p.Arg315Cys) | Missense | Common in SLS | Loss of function |
| c.1297_1298delGA (p.Glu433fs) | Frameshift | Rare | Loss of function |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ALDH3A2 mutations result in loss of enzymatic activity, causing Sjögren-Larsson syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0006631 - fatty acid metabolic process |
| • GO:0005789 - endoplasmic reticulum membrane | • GO:0055114 - oxidation-reduction process |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Leukotriene metabolism (Reactome: R-HSA-2142690)
• Phytanic acid peroxisomal oxidation (Reactome: R-HSA-389887)
Protein Summary
Fatty aldehyde dehydrogenase (FALDH) is a 485-amino acid microsomal enzyme that uses NAD+ as a cofactor to oxidize medium- to long-chain aliphatic aldehydes into fatty acids. It is anchored to the endoplasmic reticulum membrane via an N-terminal transmembrane domain. Defects in FALDH lead to accumulation of fatty aldehydes and alcohols, particularly in the skin and brain, resulting in Sjögren-Larsson syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH3A2 Knockout HEK293 Cell Line | EDJ-KQ4041 | Human | 224 | Details Get a Quote |
| ALDH3A2 Knockout A-549 Cell Line | EDJ-KQ25054 | Human | 224 | Details Get a Quote |
| ALDH3A2 Knockout HCT 116 Cell Line | EDJ-KQ26394 | Human | 224 | Details Get a Quote |
| ALDH3A2 Knockout HeLa Cell Line | EDJ-KQ26395 | Human | 224 | Details Get a Quote |
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