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APRT Gene(Protein Coding)

Adenine Phosphoribosyltransferase

GCID:
GC16M088810
GIFtS:
65
Genes Participants
UDN Logo

Aliases for APRT Gene

Aliases for APRT Gene

  • Adenine Phosphoribosyltransferase 2 3 5
  • EC 2.4.2.7 4 61
  • Transphosphoribosidase 3
  • AMP Pyrophosphorylase 3
  • AMP Diphosphorylase 3
  • APRTD 3
  • AMP 3

External Ids for APRT Gene

Previous GeneCards Identifiers for APRT Gene

  • GC16P080443
  • GC16P090104
  • GC16M088572
  • GC16M088620
  • GC16M087403
  • GC16M088875
  • GC16M074573

Summaries for APRT Gene

Entrez Gene Summary for APRT Gene

  • Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for APRT Gene

APRT (Adenine Phosphoribosyltransferase) is a Protein Coding gene. Diseases associated with APRT include Adenine Phosphoribosyltransferase Deficiency and Lesch-Nyhan Syndrome. Among its related pathways are Purine metabolism (REACTOME) and Innate Immune System. GO annotations related to this gene include transferase activity and adenine binding.

UniProtKB/Swiss-Prot for APRT Gene

  • Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Gene Wiki entry for APRT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APRT Gene

Genomics for APRT Gene

Products:

  1. Regulatory Element

Regulatory Elements for APRT Gene

Enhancers for APRT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G088779 1.7 FANTOM5 ENCODE dbSUPER 22.1 +29.2 29188 6.7 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 APRT SNORD68 CDT1 GALNS TRAPPC2L ENSG00000259877 RPL13 CTU2 LINC00304 RNF166
GH16G088967 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -161.5 -161545 12.4 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A YBX1 ZNF766 LOC100289580 PABPN1L LOC100129697 LOC339059 SNORD68 APRT RPL13 ZNF778 LOC101927863 ENSG00000268218
GH16G088798 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +12.2 12167 2.3 PKNOX1 ATF1 CREB3L1 ARNT SIN3A TCF12 ZNF766 ELK1 GATA2 FOS ENSG00000259877 GALNS APRT CBFA2T3 ACSF3 CDT1 PIEZO1
GH16G089503 1.8 FANTOM5 ENCODE dbSUPER 10 -695.0 -695040 6.1 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 RPL13 SPG7 SNORD68 ENSG00000268218 AFG3L1P MC1R RNU6-430P ENSG00000260279 ZNF778 LOC101927863
GH16G088854 1.4 FANTOM5 ENCODE 12.3 -44.5 -44469 4.2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 FOS KLF13 APRT CDT1 GALNS CYBA RNF166 ZC3H18 SNAI3 CBFA2T3 TRAPPC2L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APRT on UCSC Golden Path with GeneCards custom track

Promoters for APRT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089591 44 1801 MLX AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 SP3 TBX21 ZNF610

Transcription factor binding sites by QIAGEN in the APRT gene promoter:

Genomic Location for APRT Gene

Chromosome:
16
Start:
88,809,339 bp from pter
End:
88,811,944 bp from pter
Size:
2,606 bases
Orientation:
Minus strand

Genomic View for APRT Gene

Genes around APRT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for APRT Gene

Proteins for APRT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P07741-APT_HUMAN
    Recommended name:
    Adenine phosphoribosyltransferase
    Protein Accession:
    P07741
    Secondary Accessions:
    • G5E9J2
    • Q3KP55
    • Q68DF9

    Protein attributes for APRT Gene

    Size:
    180 amino acids
    Molecular mass:
    19608 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for APRT Gene

    Alternative splice isoforms for APRT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APRT Gene

Protein Expression for APRT Gene

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

Selected DME Specific Peptides for APRT Gene

P07741:
  • ECVSLVELTSLKGRE
  • GKLPGPT
  • SRGFLFGP
  • DDLLATGG
  • LKGREKL
  • SYSLEYG
  • LEYGKAELEIQKDALEPGQ

Post-translational modifications for APRT Gene

  • Ubiquitination at posLast=3434 and Lys167
  • Modification sites at PhosphoSitePlus

Other Protein References for APRT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for APRT Gene

Protein Domains for APRT Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for APRT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07741

UniProtKB/Swiss-Prot:

APT_HUMAN :
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Family:
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
genes like me logo Genes that share domains with APRT: view

No data available for Gene Families for APRT Gene

Function for APRT Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for APRT Gene

GENATLAS Biochemistry:
adenine phosphoribosyltransferase,purine salvage pathway
UniProtKB/Swiss-Prot CatalyticActivity:
AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Enzyme Numbers (IUBMB) for APRT Gene

Gene Ontology (GO) - Molecular Function for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002055 adenine binding IEA --
GO:0003999 adenine phosphoribosyltransferase activity TAS --
GO:0016208 AMP binding IDA 15196008
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with APRT: view
genes like me logo Genes that share phenotypes with APRT: view

Human Phenotype Ontology for APRT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APRT Gene

MGI Knock Outs for APRT:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for APRT Gene

Subcellular locations from UniProtKB/Swiss-Prot for APRT Gene

Cytoplasm.

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 APRT gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005829 cytosol TAS,IDA --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with APRT: view

Pathways & Interactions for APRT Gene

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

Pathways by source for APRT Gene

2 KEGG pathways for APRT Gene
1 GeneGo (Thomson Reuters) pathway for APRT Gene

UniProtKB/Swiss-Prot P07741-APT_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.

Gene Ontology (GO) - Biological Process for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006168 adenine salvage IEA --
GO:0007595 lactation IEA --
GO:0007625 grooming behavior IEA --
GO:0009116 nucleoside metabolic process IEA --
genes like me logo Genes that share ontologies with APRT: view

No data available for SIGNOR curated interactions for APRT Gene

Drugs & Compounds for APRT Gene

Products:

  1. Drug

(25) Drugs for APRT Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Propranolol Approved, Investigational Pharma Antagonist Beta blocker 228
Guanine Experimental Pharma 0

(25) Additional Compounds for APRT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Aminoimidazole-4-carboxamide
  • 4-Amino-5-Imidazolecarboxamide
  • 4-Aminoimidazole-5-carboxamide
  • 4-Carbamoyl-5-aminoimidazole
  • 4-Carboxamido-5-aminoimidazole
  • 5-Amino-1H-Imidazole-4-carboxamide
 360-97-4
Phosphoribosyl pyrophosphate
  • 5-Phospho-a-D-ribose-1-diphosphate
  • 5-Phospho-a-D-ribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phospho-alpha-D-ribose-1-diphosphate
  • 5-Phospho-alpha-D-ribosyl pyrophosphate
 7540-64-9
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with APRT: view

Transcripts for APRT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for APRT Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(278) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for APRT Gene

Adenine phosphoribosyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: - - - -
SP6: - - -
SP7: - - - -
SP8:
SP9: -

Relevant External Links for APRT Gene

GeneLoc Exon Structure for
APRT
ECgene alternative splicing isoforms for
APRT

Expression for APRT Gene

Products:

  1. Primer

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

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APRT Gene

This gene is overexpressed in Tlymphocyte (14.8).

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



Protein tissue co-expression partners for APRT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APRT Gene:

APRT

SOURCE GeneReport for Unigene cluster for APRT Gene:

Hs.28914

Evidence on tissue expression from TISSUES for APRT Gene

  • Blood(4.5)
  • Liver(4.4)
  • Skin(2.9)
  • Kidney(2.4)
  • Nervous system(2.4)
  • Stomach(2.1)
  • Lung(2)
  • Spleen(2)

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

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • urinary
Organs:
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with APRT: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for APRT Gene

Orthologs for APRT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for APRT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia APRT 35 34
  • 99.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia APRT 34 35
  • 85.19 (n)
cow
(Bos Taurus)
 Mammalia APRT 34 35
  • 85 (n)
rat
(Rattus norvegicus)
 Mammalia Aprt 34
  • 84.07 (n)
mouse
(Mus musculus)
 Mammalia Aprt 16 35 34
  • 82.22 (n)
oppossum
(Monodelphis domestica)
 Mammalia APRT 35
  • 74 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia APRT 35
  • 60 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves APRT 35 34
  • 68.34 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia APRT 35
  • 63 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia aprt 34
  • 60.34 (n)
Str.9492 34
zebrafish
(Danio rerio)
 Actinopterygii aprt 34 35
  • 57.25 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7615 34
fruit fly
(Drosophila melanogaster)
 Insecta Aprt 36 34 35
  • 53.03 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005723 34
  • 51.52 (n)
worm
(Caenorhabditis elegans)
 Secernentea T19B4.3 36 34 35
  • 50.49 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AER325W 34
  • 53.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B01309g 34
  • 52.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes APT1 34 35
  • 50.19 (n)
APT2 35
  • 40 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons APT1 34
  • 50.67 (n)
rice
(Oryza sativa)
 Liliopsida Os12g0589100 34
  • 52.19 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU02090 34
  • 56.09 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes apt1 34
  • 45.71 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 42 (a)
 OneToOne
Species where no ortholog for APRT was found in the sources mined by GeneCards:
  • 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)
  • 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 APRT Gene

ENSEMBL:
Gene Tree for APRT (if available)
TreeFam:
Gene Tree for APRT (if available)

Paralogs for APRT Gene

No data available for Paralogs for APRT Gene

Variants for APRT Gene

Sequence variations from dbSNP and Humsavar for APRT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs104894506 Pathogenic, Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,810,550(-) CCTAG(A/T)CTCCC reference, missense
rs104894508 Pathogenic, Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,810,141(-) TGAGC(C/T)GGAGA reference, missense
rs200392753 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,810,494(+) GAGCA(C/T)GCAGC reference, missense
rs281860266 Pathogenic, Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,809,793(-) CTGAG(G/T)TCCTG intron-variant, reference, missense
rs28999113 Pathogenic, Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,809,834(-) AACCA(C/T)GAACG intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv3064n100 CNV gain 25217958
dgv3065n100 CNV gain 25217958
dgv37n68 CNV loss 17160897
dgv5319n54 CNV loss 21841781
esv3639555 CNV gain 21293372
esv3892938 CNV loss 25118596
nsv1061256 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1063441 CNV loss 25217958
nsv457617 CNV gain 19166990
nsv471115 CNV loss 18288195
nsv471117 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv521217 CNV loss 19592680
nsv528898 CNV loss 19592680
nsv573674 CNV gain 21841781
nsv573714 CNV gain 21841781
nsv573718 CNV loss 21841781
nsv819907 CNV gain 19587683
nsv952071 CNV deletion 24416366

Variation tolerance for APRT Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APRT Gene

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

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

Disorders for APRT Gene

MalaCards: The human disease database

(18) MalaCards diseases for APRT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adenine phosphoribosyltransferase deficiency
  • 2,8-dihydroxyadenine urolithiasis
lesch-nyhan syndrome
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
dihydroxyadeninuria
  • adenine phosphoribosyltransferase deficiency
ureterolithiasis
  • calculus of ureter
gout
  • articular gout
- elite association - COSMIC cancer census association via MalaCards
Search APRT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APT_HUMAN
  • Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269 PubMed:11243733, ECO:0000269 PubMed:1353080, ECO:0000269 PubMed:15571218, ECO:0000269 PubMed:1746557, ECO:0000269 PubMed:21635362, ECO:0000269 PubMed:3343350, ECO:0000269 PubMed:3680503, ECO:0000269 PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for APRT Gene

uro-lithiasis,2.5 dihydroxyadenine

Relevant External Links for APRT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APRT
genes like me logo Genes that share disorders with APRT: view

Publications for APRT Gene

  1. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (PMID: 15196008) Silva M. … Thiemann O.H. (Biochemistry 2004) 3 4 22 64
  2. Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. (PMID: 15571218) Taniguchi A. … Kamatani N. (Nucleosides Nucleotides Nucleic Acids 2004) 3 4 22 64
  3. 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. (PMID: 11243733) Deng L. … Sahota A. (Mol. Genet. Metab. 2001) 3 4 22 64
  4. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (PMID: 1353080) Kamatani N. … Kashiwazaki S. (J. Clin. Invest. 1992) 3 4 22 64
  5. Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. (PMID: 1746557) Chen J. … Tischfield J.A. (Am. J. Hum. Genet. 1991) 3 4 22 64

Products for APRT Gene

  • Cloud-Clone Corp. Antibodies for APRT
  • Cloud-Clone Corp. Proteins for APRT
  • Cloud-Clone Corp Assay Kits for APRT

Sources for APRT Gene

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