PRPS1 - phosphoribosyl pyrophosphate synthetase 1 Gene

Also Known as ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5631

About PRPS1

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:107,628,510-107,651,026 (from NCBI)

This gene has 25 transcripts (splice variants), 319 orthologues, 4 paralogues and is associated with 15 phenotypes. Ubiquitous expression in thyroid (RPKM 27.0), brain (RPKM 23.0) and 25 other tissues.

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]

PRPS1 Products (2)

mRNA	Protein	Name
NM_001204402.2	NP_001191331.1	ribose-phosphate pyrophosphokinase 1 isoform 2
NM_002764.4	NP_002755.1	ribose-phosphate pyrophosphokinase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	16939420	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	16939420	GOA
enables ribose phosphate diphosphokinase activity	IDA IDA: Inferred from direct assay	16939420	GOA
enables ribose phosphate diphosphokinase activity	IMP IMP: Inferred from mutant phenotype	12847698	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hypoxanthine biosynthetic process	IMP IMP: Inferred from mutant phenotype	17701896	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	8253776	GOA
involved in purine nucleobase metabolic process	IMP IMP: Inferred from mutant phenotype	8253776	GOA
involved in purine nucleotide biosynthetic process	IMP IMP: Inferred from mutant phenotype	12847698	GOA
involved in urate biosynthetic process	IMP IMP: Inferred from mutant phenotype	12847698	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRPS1 Protein Structure

Pribosyltran_N

Pribosyl_synth

0
100
200
300
318 a.a.

Protein Preferred Names	Protein Names
ribose-phosphate pyrophosphokinase 1	dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)

PRPS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRPS1	P60891	FKBP1A	Homo sapiens	Q0VDC6	Validated Y2H	32814053
Intra	PRPS1	P60891	FKBP1A	Homo sapiens	Q0VDC6	Y2H Pooling	32814053
Intra	PRPS1	P60891	FKBP1A	Homo sapiens	Q0VDC6	Y2H Array	32814053
Intra	PRPS1	P60891	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	PRPS1	P60891	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	PRPS1	P60891	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908-2	Y2H Bait-Prey Pool	25910212
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908-2	Validated Y2H	25910212
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908-2	Y2H Array	25910212
Intra	PRPS1	P60891	BDNF	Homo sapiens	P23560-2	Validated Y2H	32814053
Intra	PRPS1	P60891	BDNF	Homo sapiens	P23560-2	Y2H Pooling	32814053
Intra	PRPS1	P60891	BDNF	Homo sapiens	P23560-2	Y2H Array	32814053
Intra	PRPS1	P60891	TARDBP	Homo sapiens	Q13148	Validated Y2H	32814053
Intra	PRPS1	P60891	TARDBP	Homo sapiens	Q13148	Y2H Pooling	32814053
Intra	PRPS1	P60891	TARDBP	Homo sapiens	Q13148	Y2H Array	32814053
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908	Y2H Prey Pooling	25416956
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908	Anti Tag CoIP	33961781
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908	Validated Y2H	25416956
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908	Anti Tag CoIP	26496610
Intra	PRPS1	P60891	PRPS2	Homo sapiens	P11908	Y2H Array	25416956
Intra	PRPS1	P60891	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	PRPS1	P60891	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	PRPS1	P60891	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Validated Y2H	25416956
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Anti Tag CoIP	33961781
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Prey Pooling	32296183
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Validated Y2H	25910212
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Validated Y2H	32296183
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Array	25416956
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Array	25910212
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Array	32296183
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Pooling	16189514
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Prey Pooling	25416956
Intra	PRPS1	P60891	PRPSAP1	Homo sapiens	Q14558	Y2H Bait-Prey Pool	25910212
Intra	PRPS1	P60891	PRPSAP2	Homo sapiens	O60256	Y2H Array	32296183
Intra	PRPS1	P60891	PRPSAP2	Homo sapiens	O60256	Anti Tag CoIP	28514442
Intra	PRPS1	P60891	PRPSAP2	Homo sapiens	O60256	Y2H Prey Pooling	32296183
Intra	PRPS1	P60891	PRPSAP2	Homo sapiens	O60256	Anti Tag CoIP	26496610
Intra	PRPS1	P60891	PRPSAP2	Homo sapiens	O60256	Anti Tag CoIP	33961781
Intra	PRPS1	P60891	CRYAB	Homo sapiens	P02511	Y2H Array	32814053
Intra	PRPS1	P60891	CRYAB	Homo sapiens	P02511	Validated Y2H	32814053
Intra	PRPS1	P60891	CRYAB	Homo sapiens	P02511	Y2H Pooling	32814053
Intra	PRPS1	P60891	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	29892012
Intra	PRPS1	P60891	GORASP2	Homo sapiens	Q9H8Y8	Y2H Pooling	16189514
Intra	PRPS1	P60891	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
Intra	PRPS1	P60891	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	PRPS1	P60891	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	PRPS1	P60891	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	PRPS1	P60891	SPG21	Homo sapiens	Q9NZD8	Y2H Pooling	16189514
Intra	PRPS1	P60891	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	PRPS1	P60891	SPG21	Homo sapiens	Q9NZD8	Y2H Array	25416956
Intra	PRPS1	P60891	SPG21	Homo sapiens	Q9NZD8	Y2H Array	32296183
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Validated Y2H	25910212
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Array	31515488
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Array	25910212
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Prey Pooling	32296183
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Validated Y2H	32296183
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Array	25416956
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Array	25502805
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Bait-Prey Pool	25910212
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Array	32296183
Intra	PRPS1	P60891	PRPS1	Homo sapiens	P60891	Y2H Pooling	16189514
Intra	PRPS1	P60891	BECN1	Homo sapiens	Q14457	Validated Y2H	32814053
Intra	PRPS1	P60891	BECN1	Homo sapiens	Q14457	Y2H Array	32814053
Intra	PRPS1	P60891	BECN1	Homo sapiens	Q14457	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PRPS1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700595	PRPS1 Protein, Human (His-SUMO)	P60891-1 (P2-L318)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Phosphoribosylpyrophosphate Synthetase Superactivity	PRPS1 SUPERACTIVITY Prpp Synthetase Superactivity Gout, Prps-Related Prpp Synthetase Deficiency Prpp Synthetase Overactivity Prs Overactivity Prs Superactivity Mild Phosphoribosylpyrophosphate Synthetase Superactivity Mild Prpp Synthetase Superactivity Mild Prps1 Superactivity Severe Phosphoribosylpyrophosphate Synthetase Superactivity Severe Prpp Synthetase Superactivity Severe Prps1 Superactivity Prps-Related Gout Superactivity, Phosphoribosylpyrophosphate Synthetase
Arts Syndrome	ARTS Mrxsarts Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision Mrxs18 Lethal Ataxia With Deafness And Optic Atrophy Fatal X-Linked Ataxia With Deafness And Loss Of Vision Mental Retardation, X-Linked, Syndromic, Arts Type Mental Retardation, X-Linked, Syndromic 18 Syndromic X-Linked Mental Retardation 18 Syndromic X-Linked Mental Retardation Arts Type Lethal Ataxia-Deafness-Optic Atrophy X-Linked Fatal Ataxia With Deafness And Loss Of Vision Ataxia-Deafness-Optic Atrophy, Lethal Lethal Ataxia With Hearing Loss And Optic Atrophy Art
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	CMTX5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease X-Linked Recessive 5 Optic Atrophy, Polyneuropathy, And Deafness Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 Cmt5x X-Linked Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 Optic Atrophy Polyneuropathy Deafness Optic Atrophy With Polyneuropathy And Deafness Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
Deafness, X-Linked 1	DFNX1 Dfn2 Deafness, X-Linked 2, Sensorineural Congenital X-Linked Deafness 1 X-Linked Sensorineural Congenital Deafness 2 Deafness, X-Linked, 1 Congenital Sensorineural Deafness X-Linked 2 Deafness, X-Linked, Type 1
Charcot-Marie-Tooth Neuropathy X Type 5	Cmtx5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	X-Linked Isolated Neurosensory Deafness Type Dfn X-Linked Isolated Neurosensory Hearing Loss Type Dfn X-Linked Isolated Sensorineural Deafness Type Dfn X-Linked Isolated Sensorineural Hearing Loss Type Dfn X-Linked Non-Syndromic Neurosensory Deafness Type Dfn X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn
Hereditary Hearing Loss And Deafness
Gout	Gouty Arthritis Articular Gout Gouty Arthropathy Arthritis, Gouty Arthritis Gouty Idiopathic Gout Idiopathic Gout, Unspecified Site Gouty Bursitis Uratic Arthritis Gout Nos Gouty Gouty Diathesis
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
Charcot-Marie-Tooth Disease Type 5	Hereditary Motor And Sensory Neuropathy With Pyramidal Features
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Deafness, X-Linked 4	DFNX4 Dfn6 Deafness, Nonsyndromic Sensorineural Progressive 6 X-Linked Deafness 4 Deafness, X-Linked 6, Progressive Nonsyndromic Sensorineural Progressive Deafness 6 X-Linked Progressive Deafness 6 Deafness, X-Linked, 4 Deafness Nonsyndromic Sensorineural Progressive 6 Deafness X-Linked 6 Progressive Deafness, X-Linked, Type 4
Charcot-Marie-Tooth Disease Type X
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Nephrolithiasis, Uric Acid	Nephrolithiasis, Uric Acid, Susceptibility To Uric Acid Urolithiasis Uric Acid Nephrolithiasis UAN Acute Urate Nephropathy Urolithiasis, Uric Acid Urolithiasis, Uric Acid, Susceptibility To Uric Acid Renal Calculus
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Deafness, X-Linked 3	DFNX3 Dfn4 X-Linked Deafness 3 Deafness, X-Linked 4, Congenital Sensorineural Congenital Sensorineural X-Linked Deafness 4
Deafness, X-Linked 5, With Peripheral Neuropathy	Deafness, X-Linked 5 DFNX5 Aunx1 Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy X-Linked Deafness 5 X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1 X-Linked Hsan With Deafness X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness X-Linked Hsan With Hearing Loss X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss Deafness, X-Linked, 5, With Peripheral Neuropathy Deafness, X-Linked, Type 5
Non-Syndromic X-Linked Intellectual Disability 63	Acsl4-Related Intellectual Disability Mrx63 Mrx68 X-Linked Mental Retardation 68
Hyperuricemia	Blood Urate Raized Uricacidemia
Cataract 40	CTRCT40 Cataract 40 With Or Without Microcornea Cct Cataract, Congenital, X-Linked Cataract 40, X-Linked Cataract, Congenital, With Microcornea Or Slight Microphthalmia Cxn Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes Cataract 40 X-Linked Cataract Congenital X-Linked Cataract, Total Congenital Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes X-Linked Congenital Cataract Cataract, Type 40
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Urolithiasis
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 30	Mrx30 Mrx47 X-Linked Mental Retardation 30/47 X-Linked Mental Retardation 47 Mental Retardation, X-Linked, Type 30/47
Deafness, X-Linked 7	X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome DFNX7 X-Linked Deafness 7 Deafness, X-Linked, 7
Childhood B-Cell Acute Lymphoblastic Leukemia	B-Cell Childhood Acute Lymphoblastic Leukemia
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Syndromic Intellectual Disability
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Hyperuricemia, Hprt-Related	Hprt-Related Gout Kelley-Seegmiller Syndrome Hprt Deficiency, Partial HRH Gout, Hprt-Related Hprt1 Deficiency, Partial Hrpt-Related Hyperuricemia Hprt Deficiency, Grade I Hprt Partial Deficiency Hprt-Related Hyperuricemia Hprt1 Partial Deficiency Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial Hyperuricemia, Hrpt-Related
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Retinal Degeneration	Degeneration Of Retina
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11219	PRPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-128345	UDM-001651	Antagonist	/	Unkown
HY-RS18677	Prps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25163	Prps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PRPS1	VGNC	VGNC:53800
Rattus norvegicus	PRPS1	RGD	RGD:61955
Felis catus	PRPS1	VGNC	VGNC:108500
Canis familiaris	PRPS1	VGNC	VGNC:54184
Mus musculus	PRPS1	MGD	MGI:97775
Macaca mulatta	PRPS1	VGNC	VGNC:103848
Others	PRPS1	NCBI