Home > Product > Antibody > Rabbit Anti-PRPS1/FITC Conjugated antibody
ARTS; CMTX5; Deafness 2 perceptive congenital; Deafness X linked 2 perceptive congenital; DFN2; DFNX1; EC 2.7.6.1; KIAA0967; Phosphoribosyl pyrophosphate synthase I; Phosphoribosyl pyrophosphate synthetase I; PPRibP; Prps1; PRPS1_HUMAN; PRS I
Cat:
SL19407R-FITC
Species Reactivity:
(predicted: Human,Mouse,Rat,Cow,Xenopus laevis, Xenopus tropicalis)
Immunogen:
KLH conjugated synthetic peptide derived from human PRPS1
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
34kDa
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Unit:
Price: $
Product PDFs
Datasheet:


background:
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]

Function:
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

DISEASE:
Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]; 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) [MIM:311070]; 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) [MIM:301835]; 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)
[MIM:304500]; 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.

Similarity:
Belongs to the ribose-phosphate pyrophosphokinase family.

Database links:

Entrez Gene: 5631 Human

Entrez Gene: 781227 Cow

Entrez Gene: 19139 Mouse

Entrez Gene: 29562 Rat

Entrez Gene: 314140 Rat

Omim: 311850 Human

SwissProt: Q2HJ58 Cow

SwissProt: P60891 Human

SwissProt: Q9D7G0 Mouse

SwissProt: P60892 Rat

Unigene: 56 Human

Unigene: 287178 Mouse

Unigene: 91470 Rat

Unigene: 9761 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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