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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

PRPS1

contributors: mct/npt/pgu - updated : 03-09-2019

HGNC name	phosphoribosyl pyrophosphate synthetase 1
HGNC id	9462

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PRPS1 , CMTX5 , ARTS , DFN2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   inhibited neuroblastoma cell proliferation and tumor growth via disturbing DNA synthesis tumoral     --over   in colorectal cancer constitutional germinal mutation       causing retinal degeneration in females

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	increased PRPS1 activity, which is marked by S103 phosphorylation, is more important in promoting tumorigenesis and is a promising diagnostic indicator for Colorectal cancer
Therapy target
	System Type Disorder Pubmed neuromuscular neuropathy   target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy

ANIMAL & CELL MODELS