AASDH
Aminoadipate-Semialdehyde Dehydrogenase
Gene Information Card
| Symbol | AASDH |
|---|---|
| Full Name | Aminoadipate-Semialdehyde Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 132949 ncbi.nlm.nih.gov/gene/132949 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q8N5M1 |
| OMIM ID | 619323 |
| HGNC ID | 26318 |
| Aliases | ALDH7A2, ALDH7A2L, AASD |
Description
AASDH encodes aminoadipate-semialdehyde dehydrogenase, an enzyme involved in the lysine degradation pathway. It catalyzes the oxidation of aminoadipate semialdehyde to aminoadipate, a step in the saccharopine pathway. Mutations in this gene are associated with metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyridoxine-dependent epilepsy (PDE) | Deficiency in AASDH leads to accumulation of toxic metabolites in lysine catabolism | ClinVar, OMIM |
| Lysine metabolism disorder | Impaired enzymatic activity disrupts lysine degradation | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocyte cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| SH-SY5Y | 3.8 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1274G>A (p.Arg425Gln) | Missense | Rare | Reduced enzyme activity |
| c.1655T>C (p.Leu552Pro) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg425Gln and p.Leu552Pro reduce or abolish enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004030 – aldehyde dehydrogenase (NAD+) activity | • GO:0006559 – L-lysine catabolic process |
| • GO:0005737 – cytoplasm | • GO:0005829 – cytosol |
Pathways
• Lysine degradation (KEGG: hsa00310)
• Saccharopine pathway (Reactome: R-HSA-71240)
Protein Summary
Aminoadipate-semialdehyde dehydrogenase is a 517-amino acid protein localized in the cytoplasm. It belongs to the aldehyde dehydrogenase family and functions as a homodimer. The enzyme uses NAD+ as a cofactor to oxidize aminoadipate semialdehyde to aminoadipate, a critical step in lysine catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AASDH Knockout HEK293 Cell Line | EDJ-KQ9307 | Human | 132949 | Details Get a Quote |
| AASDH Knockout A-549 Cell Line | EDJ-KQ35923 | Human | 132949 | Details Get a Quote |
| AASDH Knockout HCT 116 Cell Line | EDJ-KQ35924 | Human | 132949 | Details Get a Quote |
| AASDH Knockout HeLa Cell Line | EDJ-KQ35925 | Human | 132949 | Details Get a Quote |
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