AASS Gene: Aminoadipate-Semialdehyde Synthase
Genetic and Functional Insights into AASS, a Key Enzyme in Lysine Metabolism
Gene Information Card
| Symbol | AASS |
|---|---|
| Full Name | Aminoadipate-Semialdehyde Synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 10157 ncbi.nlm.nih.gov/gene/10157 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q9UDR5 |
| OMIM ID | 605113 |
| HGNC ID | 17366 |
| Aliases | LKR/SDH, LKRSDH, LORSDH, SAC3, SDH |
Description
The AASS gene encodes aminoadipate-semialdehyde synthase, a bifunctional enzyme that catalyzes the first two steps of lysine degradation in the mitochondrial matrix. The enzyme possesses both lysine-ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activities, converting lysine to saccharopine and then to α-aminoadipate-δ-semialdehyde. Mutations in AASS cause hyperlysinemia and saccharopinuria, autosomal recessive disorders of lysine metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperlysinemia | Loss-of-function mutations in AASS impair lysine degradation, leading to elevated lysine levels in blood and urine. | ClinVar, OMIM |
| Saccharopinuria | Deficient saccharopine dehydrogenase activity results in accumulation of saccharopine, a variant of hyperlysinemia. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 6.8 | Medium |
| Brain | 3.2 | Low |
| Heart | 2.1 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK293 | 4.7 | Embryonic kidney cells |
| SH-SY5Y | 2.8 | Neuroblastoma cell line |
| A549 | 1.2 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1279C>T (p.Arg427*) | Nonsense | Rare | Loss of function; associated with hyperlysinemia |
| c.1885G>A (p.Gly629Arg) | Missense | Rare | Reduced enzymatic activity; reported in saccharopinuria |
| c.2662C>T (p.Arg888Trp) | Missense | Rare | Impaired SDH activity; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in AASS result in loss of LKR and/or SDH enzymatic activity, leading to hyperlysinemia and saccharopinuria.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AASS.
Dominant Negative (DN)
No dominant-negative effects have been described for AASS mutations; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003824 – catalytic activity | • GO:0005739 – mitochondrion |
| • GO:0006559 – L-lysine catabolic process | • GO:0016829 – lyase activity |
| • GO:0017160 – saccharopine dehydrogenase activity | • GO:0030145 – manganese ion binding |
| • GO:0042802 – identical protein binding |
Pathways
• Lysine degradation (KEGG: hsa00310)
• Metabolism of amino acids and derivatives (Reactome: R-HSA-71291)
Protein Summary
Aminoadipate-semialdehyde synthase is a mitochondrial bifunctional enzyme composed of two identical subunits. Each subunit contains an N-terminal lysine-ketoglutarate reductase domain and a C-terminal saccharopine dehydrogenase domain. The enzyme catalyzes the conversion of L-lysine to saccharopine (LKR activity) and subsequently to α-aminoadipate-δ-semialdehyde (SDH activity), using NADPH and NAD+ as cofactors. Deficiency leads to accumulation of lysine and saccharopine, causing metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AASS Knockout HEK293 Cell Line | EDJ-KQ6293 | Human | 10157 | Details Get a Quote |
| AASS Knockout HCT 116 Cell Line | EDJ-KQ31572 | Human | 10157 | Details Get a Quote |
| AASS Knockout HeLa Cell Line | EDJ-KQ31573 | Human | 10157 | Details Get a Quote |
| AASS Knockout A-549 Cell Line | EDJ-KQ63812 | Human | 10157 | Details Get a Quote |
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