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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AASDHPPT
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Chromosome 11 · 11q22.3
NCBI Gene: 60496Ensembl: ENSG00000149313.12HGNC: HGNC:14235UniProt: Q9NRN7
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomemagnesium ion bindingprotein bindingholo-[acyl-carrier-protein] synthase activityneurodegenerative diseasevascular diseasepreeclampsiarhabdomyolysis
✦AI Summary

AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase) is a phosphopantetheinyl transferase that catalyzes post-translational modification of target proteins by transferring the 4'-phosphopantetheine moiety from coenzyme A to serine residues 1. While traditionally characterized as a cytoplasmic enzyme, AASDHPPT contains an N-terminal mitochondrial targeting sequence within its first 20 amino acids that enables dual localization to the mitochondrial matrix 2. This mitochondrial localization is functionally significant: AASDHPPT is required for phosphopantetheinylation of mitochondrial acyl carrier protein, which is essential for mitochondrial fatty acid synthesis (mtFAS) activity and oxidative metabolism 1. Loss of AASDHPPT results in impaired mtFAS pathway function and compromised mitochondrial respiration. Clinically, five AASDHPPT variants of uncertain significance have been identified as likely pathogenic due to mtFAS dysfunction 2. Beyond its metabolic role, AASDHPPT shows dysregulation in disease contexts: expression is upregulated in glioma tissues 3 and identified as a hub gene in colorectal cancer pathogenesis through gene co-expression analysis 4. Additionally, AASDHPPT serves as a tumor-associated antigen, eliciting autoantibody responses in ovarian cancer 5.

Sources cited
1
AASDHPPT localizes to mitochondrial matrix via N-terminal targeting sequence and is required for mitochondrial respiration, oxidative metabolism, and mtFAS activity; loss causes failed phosphopantetheinylation of mitochondrial acyl carrier protein; pathogenic variants identified
PMID: 41061852
2
Confirms AASDHPPT dual cytoplasmic and mitochondrial localization required for mtFAS and oxidative function; identifies five pathogenic variants causing loss of mtFAS activity
PMID: 38766035
3
AASDHPPT identified as hub gene in colorectal cancer through weighted gene co-expression network analysis, associated with metabolic pathways in CRC pathogenesis
PMID: 32815531
4
AASDHPPT serves as tumor-associated antigen in ovarian cancer, showing autoantibody signatures detectable by protein microarray
PMID: 19094976
5
AASDHPPT gene expression is upregulated in glioma tissues as part of altered metabolic pathways including sulfotransferase and nucleotide metabolism
PMID: 30283018
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
vascular diseaseOpen Targets
0.22Weak
preeclampsiaOpen Targets
0.21Weak
rhabdomyolysisOpen Targets
0.12Weak
arthritisOpen Targets
0.12Weak
sialolithiasisOpen Targets
0.11Weak
inherited retinal dystrophyOpen Targets
0.11Weak
liver diseaseOpen Targets
0.10Suggestive
hemiplegiaOpen Targets
0.08Suggestive
cardiac transplantOpen Targets
0.07Suggestive
food allergyOpen Targets
0.06Suggestive
ShockOpen Targets
0.06Suggestive
tooth diseaseOpen Targets
0.06Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
iridocorneal endothelial syndromeOpen Targets
0.04Suggestive
X-linked intellectual disability-retinitis pigmentosa syndromeOpen Targets
0.04Suggestive
Tietz syndromeOpen Targets
0.04Suggestive
islet cell adenomatosisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFAB1Protein interaction99%FASNProtein interaction98%AASDHProtein interaction98%COASYProtein interaction91%H4C7Protein interaction91%MCATProtein interaction88%
Tissue Expression6 tissues
Brain
100%
Heart
57%
Bone Marrow
32%
Liver
31%
Ovary
29%
Lung
16%
Gene Interaction Network
Click a node to explore
AASDHPPTNDUFAB1FASNAASDHCOASYH4C7MCAT
PROTEIN STRUCTURE
Preparing viewer…
PDB2C43 · 1.93 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.49 [0.33–0.75]
RankingsWhere AASDHPPT stands among ~20K protein-coding genes
  • #7,139of 20,598
    Most Researched65
  • #6,001of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedAASDHPPT
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Mitochondrial phosphopantetheinylation is required for oxidative metabolism.
PMID: 41061852
Metabolism · 2026
1.00
2
Mitochondrial Phosphopantetheinylation is Required for Oxidative Function.
PMID: 38766035
bioRxiv · 2025
0.83
3
Identification of key gene modules and genes in colorectal cancer by co-expression analysis weighted gene co-expression network analysis.
PMID: 32815531
Biosci Rep · 2020
0.67
4
Identifying novel autoantibody signatures in ovarian cancer using high-density protein microarrays.
PMID: 19094976
Clin Biochem · 2009
0.50
5
Genome-Wide Detection of Selective Signatures in Chicken through High Density SNPs.
PMID: 27820849
PLoS One · 2016
0.33