This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associat... See more...

Aliases for AASS Gene

Aliases for AASS Gene

  • Aminoadipate-Semialdehyde Synthase 2 3 5
  • Alpha-Aminoadipic Semialdehyde Synthase, Mitochondrial 3 4
  • LKR/SDH 3 4
  • LKRSDH 2 3
  • LORSDH 2 3
  • Lysine-Ketoglutarate Reductase /Saccharopine Dehydrogenase 3
  • Lysine Ketoglutarate Reductase/Saccharopine Dehydrogenase 2
  • Alpha-Aminoadipate Semialdehyde Synthase 3
  • Alpha-Aminoadipic Semialdehyde Synthase 2
  • Aminoadipic Semialdehyde Synthase 3
  • Lysine-2-Oxoglutarate Reductase 3
  • AASS 5

External Ids for AASS Gene

Previous GeneCards Identifiers for AASS Gene

  • GC07M120194
  • GC07M121256
  • GC07M121270
  • GC07M121310
  • GC07M121503
  • GC07M121713
  • GC07M116077

Summaries for AASS Gene

Entrez Gene Summary for AASS Gene

  • This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for AASS Gene

AASS (Aminoadipate-Semialdehyde Synthase) is a Protein Coding gene. Diseases associated with AASS include Hyperlysinemia, Type I and Saccharopinuria. Among its related pathways are Lysine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity.

UniProtKB/Swiss-Prot Summary for AASS Gene

  • Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.

Gene Wiki entry for AASS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AASS Gene

Genomics for AASS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AASS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J122140 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 611.3 +1.7 1655 5.2 SP1 CREB1 GATAD2A REST ZNF629 TFE3 RFX5 FOXA1 LARP7 PRDM1 AASS ENSG00000234418 FEZF1-AS1 PTPRZ1 piR-35312-032
GH07J122145 Enhancer 0.5 ENCODE dbSUPER 600.7 -2.0 -1971 1.5 SPI1 NANOG AASS ENSG00000234418 FEZF1-AS1 LOC100130618 FEZF1
GH07J122092 Enhancer 0.6 ENCODE 10.9 +51.2 51161 0.5 CTCF FOXA1 ZNF143 RAD21 POLR2A TRIM22 RELB ZNF592 SMC3 MBD1 lnc-FEZF1-1 AASS RF00017-6583 PTPRZ1
GH07J122166 Enhancer 0.5 Ensembl 11.6 -22.5 -22457 1.1 FOXA1 BRCA1 CEBPB JUN JUND EP300 GATA3 AASS FEZF1-AS1 ENSG00000226636 lnc-PTPRZ1-7 ENSG00000234418 LOC102724527 FEZF1
GH07J122147 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.7 -4.6 -4614 2.6 ZSCAN4 POLR2A ETS1 NANOG BACH1 POU5F1 FEZF1-AS1 AASS ENSG00000234418 LOC100130618 FEZF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AASS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AASS

Top Transcription factor binding sites by QIAGEN in the AASS gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • Cdc5
  • CP1A
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for AASS Gene

Genomic Locations for AASS Gene
chr7:122,073,544-122,144,269
(GRCh38/hg38)
Size:
70,726 bases
Orientation:
Minus strand
chr7:121,713,598-121,784,344
(GRCh37/hg19)
Size:
70,747 bases
Orientation:
Minus strand

Genomic View for AASS Gene

Genes around AASS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AASS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AASS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AASS Gene

Proteins for AASS Gene

  • Protein details for AASS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UDR5-AASS_HUMAN
    Recommended name:
    Alpha-aminoadipic semialdehyde synthase, mitochondrial
    Protein Accession:
    Q9UDR5
    Secondary Accessions:
    • O95462

    Protein attributes for AASS Gene

    Size:
    926 amino acids
    Molecular mass:
    102132 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for AASS Gene

neXtProt entry for AASS Gene

Post-translational modifications for AASS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AASS Gene

No data available for DME Specific Peptides for AASS Gene

Domains & Families for AASS Gene

Gene Families for AASS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AASS Gene

Suggested Antigen Peptide Sequences for AASS Gene

GenScript: Design optimal peptide antigens:
  • Aminoadipate-semialdehyde synthase, isoform CRA_a (A4D0W4_HUMAN)
  • LKR/SDH (AASS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UDR5

UniProtKB/Swiss-Prot:

AASS_HUMAN :
  • In the N-terminal section; belongs to the AlaDH/PNT family.
Family:
  • In the N-terminal section; belongs to the AlaDH/PNT family.
  • In the C-terminal section; belongs to the saccharopine dehydrogenase family.
genes like me logo Genes that share domains with AASS: view

Function for AASS Gene

Molecular function for AASS Gene

UniProtKB/Swiss-Prot Function:
Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-saccharopine + NADP(+) = 2-oxoglutarate + H(+) + L-lysine + NADPH; Xref=Rhea:RHEA:19373, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16810, ChEBI:CHEBI:32551, ChEBI:CHEBI:57783, ChEBI:CHEBI:57951, ChEBI:CHEBI:58349; EC=1.5.1.8;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-saccharopine + NAD(+) = (S)-2-amino-6-oxohexanoate + H(+) + L-glutamate + NADH; Xref=Rhea:RHEA:24520, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:57951, ChEBI:CHEBI:58321; EC=1.5.1.9;.
UniProtKB/Swiss-Prot Induction:
Induced by starvation.

Phenotypes From GWAS Catalog for AASS Gene

Gene Ontology (GO) - Molecular Function for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004753 saccharopine dehydrogenase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IEA --
GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS 10775527
genes like me logo Genes that share ontologies with AASS: view
genes like me logo Genes that share phenotypes with AASS: view

Human Phenotype Ontology for AASS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AASS Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AASS

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AASS Gene

Localization for AASS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AASS Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AASS gene
Compartment Confidence
mitochondrion 5
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion TAS 10567240
GO:0005759 mitochondrial matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with AASS: view

Pathways & Interactions for AASS Gene

genes like me logo Genes that share pathways with AASS: view

UniProtKB/Swiss-Prot Q9UDR5-AASS_HUMAN

  • Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6.
  • Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6.

Gene Ontology (GO) - Biological Process for AASS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process NAS,TAS --
GO:0008152 metabolic process IEA --
GO:0019477 L-lysine catabolic process IEA --
GO:0019878 lysine biosynthetic process via aminoadipic acid IBA 21873635
GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine IEA --
genes like me logo Genes that share ontologies with AASS: view

No data available for SIGNOR curated interactions for AASS Gene

Drugs & Compounds for AASS Gene

(16) Drugs for AASS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304
Famotidine Approved Pharma Histamine H2-receptor antagonist 82
Water Approved Pharma 0
D-Lysine Approved, Experimental Nutra Agonist, Full agonist 0

(11) Additional Compounds for AASS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-2-amino-6-oxohexanoate
  • 2-amino-6-oxo-HEXANOIC ACID
  • 6-oxo-L-Norleucine
  • Allysine
  • L-2-Aminoadipate 6-semialdehyde
  • L-6-Oxonorleucine
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with AASS: view

Transcripts for AASS Gene

mRNA/cDNA for AASS Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AASS

Alternative Splicing Database (ASD) splice patterns (SP) for AASS Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
SP1: - - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6: - -
SP7:

ExUns: 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for AASS Gene

GeneLoc Exon Structure for
AASS

Expression for AASS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AASS Gene

Protein differential expression in normal tissues from HIPED for AASS Gene

This gene is overexpressed in Liver (25.3), Bone (6.6), Uterus (6.3), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AASS Gene



Protein tissue co-expression partners for AASS Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AASS

SOURCE GeneReport for Unigene cluster for AASS Gene:

Hs.156738

mRNA Expression by UniProt/SwissProt for AASS Gene:

Q9UDR5-AASS_HUMAN
Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver.

Evidence on tissue expression from TISSUES for AASS Gene

  • Liver(4.6)
  • Heart(2.4)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AASS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
General:
  • blood
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with AASS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AASS Gene

Orthologs for AASS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AASS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AASS 30 31
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AASS 30 31
  • 89.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AASS 30 31
  • 86.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AASS 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Aass 30 17 31
  • 84.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aass 30
  • 84.54 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AASS 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AASS 30 31
  • 74.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AASS 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aass 30
  • 71.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii aass 30 31
  • 64.93 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta LKR 30 31
  • 54.02 (n)
OneToOne
BEST:CK02318 32
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008632 30
  • 53.68 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_R02D3.1 30
  • 55.19 (n)
R02D3.1 31 32
  • 46 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18744g 30
  • 50.68 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS9 30 31 33
  • 50.49 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G33150 30
  • 48.96 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0783700 30
  • 50.15 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3B8.03 30
  • 48.3 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03748 30
  • 47.79 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5709 30
Species where no ortholog for AASS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AASS Gene

ENSEMBL:
Gene Tree for AASS (if available)
TreeFam:
Gene Tree for AASS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AASS: view image

Paralogs for AASS Gene

No data available for Paralogs for AASS Gene

Variants for AASS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AASS Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
715406 Likely Benign: not provided 122,133,690(-) C/G MISSENSE_VARIANT
718539 Benign: not provided 122,098,872(-) T/TAAAAAAA INTRON_VARIANT
719136 Benign: not provided 122,076,556(-) C/T MISSENSE_VARIANT
722486 Likely Benign: not provided 122,115,172(-) G/A SYNONYMOUS_VARIANT
733485 Benign: not provided 122,113,657(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AASS Gene

Structural Variations from Database of Genomic Variants (DGV) for AASS Gene

Variant ID Type Subtype PubMed ID
dgv6602n100 CNV loss 25217958
esv2665877 CNV deletion 23128226
esv3614835 CNV loss 21293372
esv3891198 CNV gain 25118596
nsv1016617 CNV loss 25217958
nsv523632 CNV loss 19592680
nsv608334 CNV loss 21841781
nsv608335 CNV loss 21841781

Variation tolerance for AASS Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AASS Gene

Human Gene Mutation Database (HGMD)
AASS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AASS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AASS Gene

Disorders for AASS Gene

MalaCards: The human disease database

(7) MalaCards diseases for AASS Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase deficiency
saccharopinuria
  • hyperlysinemia, type i
2,4-dienoyl-coa reductase deficiency
  • decrd
chronic polyneuropathy
2-aminoadipic 2-oxoadipic aciduria
  • amoxad
- elite association - COSMIC cancer census association via MalaCards
Search AASS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AASS_HUMAN
  • Hyperlysinemia, 1 (HYPLYS1) [MIM:238700]: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant. {ECO:0000269 PubMed:10775527}. Note=The disease is caused by mutations affecting the gene represented in this entry. In hyperlysinemia 1, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine. Some individuals, however, retain significant amounts of lysine-ketoglutarate reductase and present with saccharopinuria, a metabolic condition with few, if any, clinical manifestations. {ECO:0000305 PubMed:463877}.
  • 2,4-dienoyl-CoA reductase deficiency (DECRD) [MIM:616034]: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. {ECO:0000269 PubMed:24847004}. Note=The protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS. {ECO:0000269 PubMed:24847004}.

Additional Disease Information for AASS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AASS: view

No data available for Genatlas for AASS Gene

Publications for AASS Gene

  1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (PMID: 10775527) Sacksteder KA … Geraghty MT (American journal of human genetics 2000) 2 3 4 23
  2. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. (PMID: 24847004) Houten SM … Wanders RJ (Human molecular genetics 2014) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4
  5. The enzymology of lysine catabolism in rice seeds--isolation, characterization, and regulatory properties of a lysine 2-oxoglutarate reductase/saccharopine dehydrogenase bifunctional polypeptide. (PMID: 9249048) Gaziola SA … Azevedo RA (European journal of biochemistry 1997) 23 26

Products for AASS Gene

Sources for AASS Gene