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PRPS1L1 Antibody (PACO11504)

SKU:
PACO11504
Product Type:
Antibody
Reactivity:
Human
Mouse
Rat
Host Species:
Rabbit
Isotype:
IgG
Applications:
ELISA
WB
Antibody Type:
Polyclonal Antibody
Conjugation:
Unconjugated
€459
Frequently bought together:

Description

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PRPS1L1 Antibody (PACO11504)

The PRPS1L1 Polyclonal Antibody (PACO11504) is a valuable tool for researchers studying PRPS1L1, an enzyme involved in nucleotide biosynthesis and regulation. This antibody, produced in rabbits, is highly specific to human samples and has been validated for use in Western blot and immunohistochemistry applications. By binding to the PRPS1L1 protein, researchers can accurately detect and analyze its expression in various cell types, making it a versatile tool for studies in genetics, cell biology, and metabolic disorders.

PRPS1L1 plays a crucial role in the production of purine nucleotides, which are essential for DNA and RNA synthesis as well as energy metabolism in cells. Dysregulation of PRPS1L1 has been linked to various genetic disorders, including neurodevelopmental conditions and metabolic diseases. By investigating the function and expression of PRPS1L1, researchers can further our understanding of these disorders and potentially develop targeted therapies for patients affected by them.

Antibody Name:PRPS1L1 Antibody (PACO11504)
Antibody SKU:PACO11504
Size:50ul
Host Species:Rabbit
Tested Applications:ELISA, WB
Recommended Dilutions:
Species Reactivity:Human, Mouse, Rat
Immunogen:Human PRPS1L1
Form:Liquid
Storage Buffer:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Purification Method:Antigen Affinity purified
Clonality:Polyclonal
Isotype:IgG
Conjugate:Non-conjugated
Synonyms:phosphoribosyl pyrophosphate synthetase 1-like 1;PRPS1L1;PRPS1;PRPS3;PRPSL;PRS-III ;
UniProt Protein Function:PRPS1: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5); also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in PRPS1 are the cause of ARTS syndrome (ARTS); also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1); also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. Belongs to the ribose-phosphate pyrophosphokinase family.Protein type: Nucleotide Metabolism - purine; Carbohydrate Metabolism - pentose phosphate pathway; EC 2.7.6.1; Kinase, otherChromosomal Location of Human Ortholog: Xq22.3Cellular Component: cytosolMolecular Function: ribose phosphate diphosphokinase activity; protein homodimerization activity; magnesium ion binding; kinase activity; ATP bindingBiological Process: nervous system development; hypoxanthine biosynthetic process; carbohydrate metabolic process; 5-phosphoribose 1-diphosphate biosynthetic process; ribonucleoside monophosphate biosynthetic process; pathogenesis; purine nucleotide biosynthetic process; phosphorylation; purine base metabolic process; pyrimidine nucleotide biosynthetic processDisease: Charcot-marie-tooth Disease, X-linked Recessive, 5; Arts Syndrome; Phosphoribosylpyrophosphate Synthetase Superactivity
UniProt Protein Details:
NCBI Summary:This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
UniProt Code:P21108
NCBI GenInfo Identifier:324711015
NCBI Gene ID:5631
NCBI Accession:NP_001191331.1
UniProt Secondary Accession:P21108,P11908, P21108
UniProt Related Accession:P21108,P60891
Molecular Weight:27,526 Da
NCBI Full Name:ribose-phosphate pyrophosphokinase 1 isoform 2
NCBI Synonym Full Names:phosphoribosyl pyrophosphate synthetase 1
NCBI Official Symbol:PRPS1  
NCBI Official Synonym Symbols:ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP  
NCBI Protein Information:ribose-phosphate pyrophosphokinase 1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; phosphoribosyl pyrophosphate synthase I; ribose-phosphate diphosphokinase 1
UniProt Protein Name:Ribose-phosphate pyrophosphokinase 1
UniProt Synonym Protein Names:PPRibP; Phosphoribosyl pyrophosphate synthase I; PRS-I
Protein Family:
UniProt Gene Name:PRPS1  
UniProt Entry Name:PRPS1_HUMAN

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