HPRT1 Antibody

Code CSB-PA010706GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
HPRT1
Alternative Names
HGPRT antibody; HGPRTase antibody; HPRT 1 antibody; HPRT_HUMAN antibody; HPRT1 antibody; Hypoxanthine guanine phosphoribosyltransferase antibody; Hypoxanthine phosphoribosyltransferase 1 (Lesch Nyhan syndrome) antibody; Hypoxanthine phosphoribosyltransferase 1 antibody; Hypoxanthine-guanine phosphoribosyltransferase antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human HPRT1
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IHC,IF
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Customer Reviews and Q&A

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Target Background

Function
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
Gene References into Functions
  1. 75% of Hypoxanthine-guanine phosphoribosyltransferase (HPRT)-deficiency carrier females presented skewed X chromosome inactivation (XCI) . Moreover, skewed XCI is significantly more frequent in Lesch-Nyhan disease (LND) carriers (83%) than in Lesch-Nyhan variant (LNV, 0-50%, depending on the phenotype severity). PMID: 28904386
  2. mutation in the human HPRT1 gene and the Lesch-Nyhan disease PMID: 29185864
  3. Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene PMID: 28524722
  4. The results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden. PMID: 28712454
  5. product release from these HsHGPRT and PfHGXPRT PMID: 27404508
  6. A missense mutation in exon 6 of the coding region of the HPRT1 gene contributes to Lesch-Nyhan Syndrome. PMID: 27379977
  7. A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing. PMID: 27754763
  8. Three novel independent mutations in the coding region of the HPRT1 gene are responsible for the HPRT1 deficiency. PMID: 28045594
  9. HPRTYale variant was identified as pathogenic in a family affected with Lesch-Nyhan syndrome. PMID: 27420966
  10. Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction. PMID: 26050630
  11. HPRT gene mutation assay demonstrated that surface chemical composition plays a significant role in silver nanoparticle toxicity. PMID: 26204901
  12. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene PMID: 25965333
  13. A highly significant correlation between six metabolites and the HGprt deficiency was established, each of them providing an easily measurable marker of the disease. PMID: 25612837
  14. HPRT mutations are not increased by systemic depleted uranium exposure. PMID: 25914368
  15. 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid. PMID: 25136576
  16. HPRT1 mutations in new Japanese families and PRPP concentration PMID: 24940672
  17. Our studies suggest that the p.Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation. PMID: 24075303
  18. In the study presented here, for the first time T-705/favipiravir absolutely depends on the cellular HGPRT enzyme to exert its anti-influenza virus activity in mammalian cells. PMID: 23907213
  19. Molecular genetic testing revealed a new frameshift mutation in the HPRT1 gene causing Lesch-Nyhan syndrome in an Indian family. PMID: 22183764
  20. study reports three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three Lesch-Nyhan syndrome affected male patients PMID: 23473102
  21. Such protein-protein interactions with HPRT1 are predicted to be impaired for the long or short forms of ALDH16A1*2. PMID: 23348497
  22. Identification of increased expression of the microRNA miR181a in HPRT-deficient human dopaminergic SH-SY5Y neuroblastoma cells. PMID: 22042773
  23. The housekeeping gene HPRT regulates purinergic signaling in pluripotent human stem cells. This regulation occurs at least partly through aberrant P2Y1-mediated expression and signaling. PMID: 22331909
  24. Mutations in Asian families with patients manifesting different clinical phenotypes, including rare cases of female subjects, by analyzing all nine exons of the HPRT gene, were identified. PMID: 22132982
  25. These results confirm the extraordinary variety and complexity of mutations in HPRT deficiency. PMID: 22132984
  26. Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1. PMID: 22132986
  27. Report lack of any common mutation causing HPRT deficiency in Poland. PMID: 19016344
  28. The study reports five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with Lesch-Nyhan Syndrome. PMID: 21780909
  29. Human hypoxanthine guanine phosphoribosyltransferase (HGPRT) catalyzes the phosphoribosylation of guanine and hypoxanthine, while Plasmodium falciparum HGPRT acts on xanthine as well. PMID: 21486037
  30. dysregulated Wnt signaling and presenilin-1 expression together with impaired expression of dopaminergic transcription factors reveal broad pleitropic neuro-regulatory defects played by HPRT expression PMID: 21305049
  31. The loss of the guanine effect in a cell line bearing a mutated inactive HGPRT, and the decreased potency of GUA in U87 cells silenced for HGPRT transcripts, demonstrates the role of the intracellular metabolism of GUA for growth-inhibitory effects. PMID: 20536392
  32. the clinical features of ten patients from eight unrelated families with the c.143G>A mutation in HPRT1 were compared. PMID: 20981450
  33. In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1. PMID: 20544509
  34. The promoter region methylation status of these five HPRT deficient patients was similar to that of normal subjects. PMID: 20544511
  35. Sequence analysis of DNA and RNA showed correction of the HPRT1 mutation. Random integration was not indicated after transfection of the mutant cells with an SDF comprised of green fluorescent protein (GFP) sequences are not found in human genomic DNA PMID: 19995283
  36. Use of HPRT1 gene for validation studies of internal controls for expression studies in aging is reported. PMID: 20038437
  37. hypoxanthine-guanine phosphoribosyltransferase PMID: 19672249
  38. recurrent large Alu-mediated deletion associated with Lesch-Nyhan syndrome PMID: 11668636
  39. High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays. PMID: 11714443
  40. This report highlights the unusual occurrence of recurrent acute renal failure in a child with partial HPRT enzyme deficiency. PMID: 11891689
  41. A comparative spectral analysis of somatic mutations at the HPRT reporter gene locus in healthy children revealed an age-specific decrease in large alterations and a corresponding increase in small alterations with increasing age. PMID: 12175903
  42. HPRT and G6PD origins of replication that are functional in the active X chromosome are utilized even when the two genes are transcriptionally silent in the inactive X chromosome PMID: 12616531
  43. In children with cancer there is no significant increase in background HPRT mutation frequency. PMID: 12874812
  44. elevated HPRT mutation rates in a colon cancer cell line are caused by mutations in the MSH6 gene, and not in the POLD1 gene PMID: 14767555
  45. how mutable and nonmutated amino acid residues in the HPRT monomer correlate with sequence conservation and predicted phenotypic effects PMID: 15146465
  46. mutation of F36 residue in the core of the protein affects the stability of the enzyme PMID: 15178494
  47. Mutation in the HPRT1 allele at the DNA and RNA levels in Lesch-Nyhan disease blastocyst. PMID: 15277709
  48. summary of mutations in HPRT1 causing HPRT deficiency PMID: 15571220
  49. a mutation of ATT to ACT (substitution of isoleucine to threonine) was found in codon 137 of HPRT in a patient with partial deficiency of the enzyme PMID: 15571222
  50. analysis of exons of HPRT from the genomic DNA of Asian HPRT deficient families PMID: 15571223

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Involvement in disease
Lesch-Nyhan syndrome (LNS); Gout HPRT-related (GOUT-HPRT)
Subcellular Location
Cytoplasm.
Protein Families
Purine/pyrimidine phosphoribosyltransferase family
Database Links

HGNC: 5157

OMIM: 300322

KEGG: hsa:3251

STRING: 9606.ENSP00000298556

UniGene: Hs.412707

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