Ppat Gene Search Result

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4 records found for search term Ppat

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
733613	PPAT	phosphoribosyl pyrophosphate amidotransferase	The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and s ... (more) even of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]	4	56393362	56435615	Human	174	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1354088	COASY	Coenzyme A synthase	Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene e ... (more) ncodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]	17	42562148	42566277	Human	208	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1348767	PPATP1	phosphoribosyl pyrophosphate amidotransferase pseudogene 1		3	87050995	87052869	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
7246747	PPATP2	phosphoribosyl pyrophosphate amidotransferase pseudogene 2		X	78699384	78699887	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]