AGXT Gene (Protein Coding)

Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase

GC02P240868
GIFtS:
46
This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] See more...

Aliases for AGXT Gene

Aliases for AGXT Gene

  • Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase 2 3 5
  • AGT1 2 3 4
  • AGT 2 3 4
  • SPT 2 3 4
  • L-Alanine: Glyoxylate Aminotransferase 1 2 3
  • Alanine-Glyoxylate Aminotransferase 2 3
  • Serine--Pyruvate Aminotransferase 3 4
  • AGXT1 2 3
  • SPAT 3 4
  • PH1 2 3
  • Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase 3
  • Alanine--Glyoxylate Aminotransferase 4
  • Serine:Pyruvate Aminotransferase 2
  • Primary Hyperoxaluria Type 1 2
  • Glycolicaciduria 2
  • EC 2.6.1.51 4
  • EC 2.6.1.44 4
  • Oxalosis I 2
  • TLH6 3
  • AGXT 5

External Ids for AGXT Gene

Previous HGNC Symbols for AGXT Gene

  • SPAT

Previous GeneCards Identifiers for AGXT Gene

  • GC02P239620
  • GC02M240478
  • GC02P241827
  • GC02P242128
  • GC02P241528
  • GC02P241456
  • GC02P233568
  • GC02P241807

Summaries for AGXT Gene

Entrez Gene Summary for AGXT Gene

  • This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGXT Gene

AGXT (Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase) is a Protein Coding gene. Diseases associated with AGXT include Hyperoxaluria, Primary, Type I and Primary Hyperoxaluria. Among its related pathways are Carbon metabolism and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding. An important paralog of this gene is PSAT1.

Gene Wiki entry for AGXT Gene

Additional gene information for AGXT Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGXT Gene

Genomics for AGXT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AGXT 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
GH02J240868 Promoter 1 EPDnew 250.7 0.0 -19 0.1 MXD4 THAP11 ZNF511 SMAD4 SAP130 RXRA ZSCAN9 ETV4 RARA DMAP1 AGXT lnc-C2orf54-4 KIF1A
GH02J240869 Enhancer 0.8 Ensembl 259.1 -0.5 -523 0.2 MXD4 CEBPA ZIC2 RXRA KMT2B TEAD3 FOXA2 DMAP1 ZBTB33 ZBTB40 AGXT lnc-C2orf54-4 KIF1A
GH02J240857 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.6 -11.3 -11324 1.4 MXD4 CEBPA ZFP64 HOMEZ KDM6A THAP11 RAD51 CTCF FOXA2 ZNF511 MAB21L4 AGXT GPR35 lnc-C2orf54-4 KIF1A
GH02J240912 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.5 +46.3 46342 6.7 MXD4 ZNF217 CTCF ZIC2 THAP11 TRIM22 MIER3 SMC3 GABPB1 RAD21 MAB21L4 AGXT ENSG00000223991 SNED1 GPC1 RNPEPL1 CROCC2 HSALNG0023624
GH02J240895 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 7.5 +28.7 28712 3.5 ZEB1 ELF1 ZIC2 SMAD4 SAP130 RXRA GABPB1 CTBP1 RARA TEAD3 MAB21L4 AGXT CROCC2 HSALNG0023623
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the AGXT gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • GR
  • GR-alpha
  • GR-beta
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for AGXT Gene

Latest Assembly
chr2:240,868,824-240,880,502
(GRCh38/hg38)
Size:
11,679 bases
Orientation:
Plus strand

Previous Assembly
chr2:241,808,241-241,819,917
(GRCh37/hg19 by Entrez Gene)
Size:
11,677 bases
Orientation:
Plus strand

chr2:241,807,896-241,819,919
(GRCh37/hg19 by Ensembl)
Size:
12,024 bases
Orientation:
Plus strand

Genomic View for AGXT Gene

Genes around AGXT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AGXT Gene

Proteins for AGXT Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

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

    Protein Symbol:
    P21549-SPYA_HUMAN
    Recommended name:
    Serine--pyruvate aminotransferase
    Protein Accession:
    P21549
    Secondary Accessions:
    • Q53QU6

    Protein attributes for AGXT Gene

    Size:
    392 amino acids
    Molecular mass:
    43010 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for AGXT Gene

neXtProt entry for AGXT Gene

Protein Expression for AGXT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AGXT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGXT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AGXT Gene

Domains & Families for AGXT Gene

Gene Families for AGXT Gene

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

Protein Domains for AGXT Gene

InterPro:
Blocks:
  • Aminotransferase, class V
ProtoNet:

Suggested Antigen Peptide Sequences for AGXT Gene

GenScript: Design optimal peptide antigens:
  • Alanine:glyoxylate aminotransferase (A2V838_HUMAN)
  • Alanine-glyoxylate aminotransferase homolog (Q9UJX1_HUMAN)
  • Alanine--glyoxylate aminotransferase (SPYA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21549

UniProtKB/Swiss-Prot:

SPYA_HUMAN :
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with AGXT: view

Function for AGXT Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for AGXT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-serine + pyruvate = 3-hydroxypyruvate + L-alanine; Xref=Rhea:RHEA:22852, ChEBI:CHEBI:15361, ChEBI:CHEBI:17180, ChEBI:CHEBI:33384, ChEBI:CHEBI:57972; EC=2.6.1.51;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glyoxylate + L-alanine = glycine + pyruvate; Xref=Rhea:RHEA:24248, ChEBI:CHEBI:15361, ChEBI:CHEBI:36655, ChEBI:CHEBI:57305, ChEBI:CHEBI:57972; EC=2.6.1.44;.
GENATLAS Biochemistry:
alanine:glyoxylate aminotransferase,pyridoxal dependent,peroxisomal

Enzyme Numbers (IUBMB) for AGXT Gene

Phenotypes From GWAS Catalog for AGXT Gene

Gene Ontology (GO) - Molecular Function for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004760 serine-pyruvate transaminase activity IBA 21873635
GO:0005515 protein binding IPI 15911627
GO:0008453 alanine-glyoxylate transaminase activity TAS 2363689
GO:0008483 transaminase activity IEA,IDA 18492492
genes like me logo Genes that share ontologies with AGXT: view
genes like me logo Genes that share phenotypes with AGXT: view

Human Phenotype Ontology for AGXT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGXT Gene

MGI Knock Outs for AGXT:

Animal Models for research

Inhibitory RNAs for research

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

No data available for Transcription Factor Targets and HOMER Transcription for AGXT Gene

Localization for AGXT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGXT Gene

Peroxisome. Mitochondrion. Note=Predominantly localized in the peroxisomes. Mitochondrial mistargeting occurs in variant proteins Arg-41, Arg-47, Ile-152, Arg-170 and Thr-244 associated with the disease HP1. {ECO:0000269 PubMed:23229545}.

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 AGXT gene
Compartment Confidence
peroxisome 5
cytosol 5
mitochondrion 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005777 peroxisome IBA,IDA 1703535
GO:0005782 peroxisomal matrix IDA,TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AGXT: view

Pathways & Interactions for AGXT Gene

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

Gene Ontology (GO) - Biological Process for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0009436 glyoxylate catabolic process IDA 22198249
GO:0019265 glycine biosynthetic process, by transamination of glyoxylate IDA 22198249
GO:0019448 L-cysteine catabolic process IDA 18492492
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with AGXT: view

No data available for SIGNOR curated interactions for AGXT Gene

Drugs & Compounds for AGXT Gene

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(17) Drugs for AGXT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Target, substrate 202
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Glutamic acid Approved Nutra 320
Pyruvic acid Approved, Investigational Nutra 0
aminooxyacetic acid Experimental Pharma Target 0

(9) Additional Compounds for AGXT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AGXT: view

Transcripts for AGXT Gene

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mRNA/cDNA for AGXT Gene

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

Inhibitory RNAs for research

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

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: - -
SP3:
SP4: -
SP5: - -

Relevant External Links for AGXT Gene

GeneLoc Exon Structure for
AGXT

Expression for AGXT Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for AGXT Gene
mRNA expression by GTEx for AGXT GenemRNA expression by BioGPS for AGXT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGXT Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for AGXT Gene

This gene is overexpressed in Liver, secretome (52.9) and Liver (10.5).

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



Protein tissue co-expression partners for AGXT Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for AGXT Gene:

Hs.144567

mRNA Expression by UniProt/SwissProt for AGXT Gene:

P21549-SPYA_HUMAN
Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for AGXT Gene

  • Liver(4.8)
  • Kidney(2.8)
  • Skin(2.2)
  • Blood(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with AGXT: view

Orthologs for AGXT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGXT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia AGXT 30 31
  • 98.94 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LOC100855679 30
  • 87.24 (n)
-- 31
  • 81 (a)
 OneToMany
-- 31
  • 76 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia AGXT 30 31
  • 84.61 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Agxt 30
  • 79.17 (n)
Mouse
(Mus musculus)
 Mammalia Agxt 30 17 31
  • 77.81 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AGXT 31
  • 73 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AGXT 31
  • 70 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AGXT 30 31
  • 69.05 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AGXT 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia agxt 30
  • 64.68 (n)
Str.5789 30
African clawed frog
(Xenopus laevis)
 Amphibia agt 30
Zebrafish
(Danio rerio)
 Actinopterygii agxta 30 31
  • 60.47 (n)
 OneToMany
agxtb 31
  • 53 (a)
 OneToMany
agxt 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13909 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Spat 30 31 32
  • 55.47 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003490 30
  • 54.64 (n)
Worm
(Caenorhabditis elegans)
 Secernentea T14D7.1 30 31 32
  • 48.4 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F08954g 30
  • 39.22 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AGX1 30 31 33
  • 39.08 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AGT 30
  • 42.68 (n)
Rice
(Oryza sativa)
 Liliopsida Os08g0502700 30
  • 47.99 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU01821 30
  • 45.81 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 23 (a)
 OneToOne
Species where no ortholog for AGXT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 AGXT Gene

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

Paralogs for AGXT Gene

Paralogs for AGXT Gene

(1) SIMAP similar genes for AGXT Gene using alignment to 2 proteins:

  • SPYA_HUMAN
  • A2V838_HUMAN
genes like me logo Genes that share paralogs with AGXT: view

Variants for AGXT Gene

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  1. SNP Genotyping and Copy Number Assays for research

Polymorphic Variants from UniProtKB/Swiss-Prot for AGXT Gene

SPYA_HUMAN-P21549
Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymatic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
204204 Pathogenic: Primary hyperoxaluria, type I 240,876,649(+) GCTTCCCATGAGGTTG
NM_000030.3(AGXT):c.846+646_942+139del 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
853262 Uncertain Significance: Primary hyperoxaluria, type I; not provided 240,877,632(+) G/A
NM_000030.3(AGXT):c.942G>A (p.Pro314=) 		SYNONYMOUS
895171 Likely Benign: Primary hyperoxaluria, type I 240,868,842(+) C/G
NM_000030.3(AGXT):c.-24C>G 		FIVE_PRIME_UTR
896591 Uncertain Significance: Primary hyperoxaluria, type I 240,868,896(+) C/G
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) 		MISSENSE
896592 Uncertain Significance: Primary hyperoxaluria, type I 240,868,905(+) C/T
NM_000030.3(AGXT):c.40C>T (p.Leu14=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGXT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv7374n54 CNV loss 21841781
dgv7375n54 CNV loss 21841781
dgv771e199 CNV deletion 23128226
esv1196389 CNV insertion 17803354
esv1710219 CNV insertion 17803354
esv3594810 CNV loss 21293372
nsv1149735 CNV deletion 26484159
nsv460167 CNV gain 19166990
nsv470531 CNV loss 18288195
nsv584861 CNV gain 21841781
nsv584881 CNV gain 21841781
nsv584886 CNV loss 21841781
nsv955294 CNV deletion 24416366

Variation tolerance for AGXT Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGXT Gene

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

SNP Genotyping and Copy Number Assays for research

Disorders for AGXT Gene

MalaCards: The human disease database

(23) MalaCards diseases for AGXT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type i
  • hp1
primary hyperoxaluria
  • hyperoxaluria, primary
nephrocalcinosis
  • hypercalcemic nephropathy
nephrolithiasis
  • kidney stones
nephrolithiasis, calcium oxalate
  • caon
- elite association - COSMIC cancer census association via MalaCards
Search AGXT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPYA_HUMAN
  • Hyperoxaluria primary 1 (HP1) [MIM:259900]: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. {ECO:0000269 PubMed:10394939, ECO:0000269 PubMed:10453743, ECO:0000269 PubMed:10541294, ECO:0000269 PubMed:10862087, ECO:0000269 PubMed:10960483, ECO:0000269 PubMed:12559847, ECO:0000269 PubMed:12777626, ECO:0000269 PubMed:1301173, ECO:0000269 PubMed:1349575, ECO:0000269 PubMed:15253729, ECO:0000269 PubMed:15849466, ECO:0000269 PubMed:15961946, ECO:0000269 PubMed:15963748, ECO:0000269 PubMed:16971151, ECO:0000269 PubMed:1703535, ECO:0000269 PubMed:17495019, ECO:0000269 PubMed:2039493, ECO:0000269 PubMed:23229545, ECO:0000269 PubMed:24055001, ECO:0000269 PubMed:24934730, ECO:0000269 PubMed:26149463, ECO:0000269 PubMed:8101040, ECO:0000269 PubMed:9192270, ECO:0000269 PubMed:9604803}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for AGXT Gene

oxalosis (hyperoxaluria type I)

Additional Disease Information for AGXT

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

Publications for AGXT Gene

  1. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. (PMID: 17495019) Williams E … Rumsby G (Clinical chemistry 2007) 3 4 23 41
  2. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (PMID: 11562405) Amoroso A … Marangella M (Journal of the American Society of Nephrology : JASN 2001) 3 23 26 41
  3. Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. (PMID: 2039493) Nishiyama K … Ichiyama A (Biochemical and biophysical research communications 1991) 2 3 4 23
  4. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. (PMID: 2045108) Purdue PE … Danpure CJ (Genomics 1991) 2 3 4 23
  5. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. (PMID: 17460142) Monico CG … Milliner DS (Journal of the American Society of Nephrology : JASN 2007) 3 23 41

ExternalLinks

View latest publications for AGXT gene in Mastermind

Products for AGXT Gene

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