AASDHPPT: Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase
A key enzyme in coenzyme A biosynthesis and post-translational modification
Gene Information Card
| Symbol | AASDHPPT |
|---|---|
| Full Name | Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 60496 ncbi.nlm.nih.gov/gene/60496 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | Q9NRN7 |
| OMIM ID | 615546 |
| HGNC ID | 29303 |
| Aliases | LYS2, AASD-PPT, AASDHPPT1 |
Description
The AASDHPPT gene encodes a bifunctional enzyme that catalyzes the conversion of aminoadipate-semialdehyde to aminoadipate and also acts as a phosphopantetheinyl transferase, transferring the 4'-phosphopantetheine moiety from coenzyme A to acyl carrier proteins. This enzyme is essential for lysine degradation and the biosynthesis of coenzyme A, a critical cofactor in numerous metabolic pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aminoadipic semialdehyde dehydrogenase deficiency | Loss of AASDHPPT function leads to accumulation of aminoadipic semialdehyde and metabolic acidosis | OMIM #615546 |
| Coenzyme A biosynthesis disorders | Impaired phosphopantetheinyl transferase activity disrupts CoA synthesis and cellular metabolism | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Brain | 4.2 | Low |
| Skeletal Muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | High expression in liver cancer cell line |
| HEK293 | 7.9 | Moderate expression |
| HeLa | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <0.01% | Loss of function, associated with metabolic disease |
| c.1456G>A (p.Gly486Arg) | Missense | <0.01% | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein lead to complete loss of enzymatic activity, causing aminoadipic semialdehyde dehydrogenase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • aminoadipate-semialdehyde dehydrogenase activity | • phosphopantetheinyl transferase activity |
| • coenzyme A biosynthetic process | • lysine catabolic process |
| • cytoplasm |
Pathways
• Lysine degradation
• Coenzyme A biosynthesis
• Pantothenate and CoA biosynthesis
Protein Summary
The AASDHPPT protein is a 711-amino acid bifunctional enzyme localized to the cytoplasm. It contains an N-terminal aminoadipate-semialdehyde dehydrogenase domain and a C-terminal phosphopantetheinyl transferase domain. The enzyme is critical for lysine catabolism and the activation of acyl carrier proteins via phosphopantetheinylation.
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