ALDH16A1: Aldehyde Dehydrogenase 16 Family Member A1
A member of the aldehyde dehydrogenase superfamily with roles in metabolism and potential links to neurological disorders
Gene Information Card
| Symbol | ALDH16A1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 16 Family Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 126133 ncbi.nlm.nih.gov/gene/126133 |
| Ensembl ID | ENSG00000161653 |
| UniProt ID | Q8IZ83 |
| OMIM ID | 618170 |
| HGNC ID | 28194 |
| Aliases | ALDH16, MGC26963, dJ279O2.2 |
Description
ALDH16A1 encodes a member of the aldehyde dehydrogenase superfamily. The protein is predicted to have aldehyde dehydrogenase activity, though its specific substrate and physiological role remain under investigation. It is expressed in multiple tissues, including brain, kidney, and testis. Mutations in ALDH16A1 have been associated with autosomal recessive Sjögren-Larsson syndrome (SLS) in some studies, but the evidence is limited and requires further validation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren-Larsson syndrome (SLS) | Biallelic mutations in ALDH16A1 may impair aldehyde metabolism, leading to accumulation of toxic aldehydes and neurological symptoms. | Limited; reported in a few families with SLS-like phenotype but not confirmed in large cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Kidney | 4.8 | Low |
| Testis | 3.9 | Low |
| Liver | 2.1 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Low expression |
| SH-SY5Y | 2.5 | Low expression |
| HepG2 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.682C>T (p.Arg228Trp) | Missense | <0.01% | Unknown effect; reported in SLS-like cases |
Mutation functional classification
Loss of Function (LOF)
p.Met1? (c.1A>G) likely abolishes translation initiation, leading to loss of protein function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 - aldehyde dehydrogenase (NAD+) activity | • GO:0008152 - metabolic process |
| • GO:0005737 - cytoplasm |
Pathways
• Metabolism of aldehydes (Reactome: R-HSA-71384)
Protein Summary
ALDH16A1 is a 802-amino acid protein with a predicted molecular weight of ~88 kDa. It contains a conserved aldehyde dehydrogenase domain and is localized to the cytoplasm. The protein is thought to oxidize aldehydes to carboxylic acids using NAD+ as a cofactor, but its specific substrate and physiological function remain unclear. Structural studies suggest it may form homodimers or heterodimers with other ALDH family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH16A1 Knockout HEK293 Cell Line | EDJ-KQ8862 | Human | 126133 | Details Get a Quote |
| ALDH16A1 Knockout A-549 Cell Line | EDJ-KQ35180 | Human | 126133 | Details Get a Quote |
| ALDH16A1 Knockout HCT 116 Cell Line | EDJ-KQ35181 | Human | 126133 | Details Get a Quote |
| ALDH16A1 Knockout HeLa Cell Line | EDJ-KQ35182 | Human | 126133 | Details Get a Quote |
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