ribose-phosphate pyrophosphokinase 1 isoform 1 [Homo sapiens]

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. [Eur J Med Genet. 2020]
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, et al. Eur J Med Genet. 2020 Nov; 63(11):104033. Epub 2020 Aug 8.
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature. [Clin Rheumatol. 2020]
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang BY, Yu HX, Min J, Song XX. Clin Rheumatol. 2020 Mar; 39(3):949-956. Epub 2019 Nov 26.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient. [Mol Genet Genomic Med. 2019]
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J, Magdelaine C, Derouault P, Beauvais-Dzugan H, Bieth E, Acket B, Arne-Bes MC, Sturtz F, Lia AS. Mol Genet Genomic Med. 2019 Sep; 7(9):e875. Epub 2019 Jul 23.

RefSeq genomic sequence
See the genomic reference sequence for the PRPS1 gene (NG_008407.1).
RefSeq mRNA
See reference mRNA sequence for the PRPS1 gene (NM_002764.4).
RefSeq protein isoforms
See the other reference sequence protein isoform for the PRPS1 gene (NP_001191331.1).

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NP_002755 [Domain Mapping of Disease Mut...]
NP_002755
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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