RPIA - ribose 5-phosphate isomerase A Gene

Homo sapiens

Also known as RPI; RPIAD

Gene ID: 22934 | Gene type: protein coding

About RPIA

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:88,691,673-88,750,929 (from NCBI)

This gene has 1 transcript (splice variant), 215 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 30.3), placenta (RPKM 17.7) and 25 other tissues.

Summary

The protein encoded by this gene is an Enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The Enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

RPIA Products(1)

mRNA	Protein	Name
NM_144563.3	NP_653164.2	ribose-5-phosphate isomerase

RPIA Protein Structure

Rib_5-P_isom_A

0
100
200
311 a.a.

Protein Preferred Names

Protein Names

ribose-5-phosphate isomerase

phosphoriboisomerase

Related Diseases

Diseases

Alias

Ribose 5-Phosphate Isomerase Deficiency

RPIAD	Deficiency Of Ribose-5-Phosphate Isomerase
Ribose-5-P Isomerase Deficiency	Ribose-5-Phosphate Isomerase Deficiency

Glutathione Synthetase Deficiency

5-Oxoprolinuria	Pyroglutamic Aciduria
Pyroglutamicaciduria	Glutathione Synthetase Deficiency With 5-Oxoprolinuria
GSSD	Oxoprolinase Deficiency
5-Oxoprolinemia	Deficiency Of Glutathione Synthase
Deficiency Of Glutathione Synthetase	Pyroglutamic Acidemia
GSS DEFICIENCY	Gluthathione Synthetase Deficiency
5-Oxoprolinase Deficiency

Fumarase Deficiency

Fumaric Aciduria	FMRD
Fumarate Hydratase Deficiency	Deficiency, Fumarase

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12159	RPIA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RPIA	VGNC	VGNC:34107
Felis catus	RPIA	VGNC	VGNC:64736
Macaca mulatta	RPIA	VGNC	VGNC:76921
Mus musculus	RPIA	MGD	MGI:103254
Rattus norvegicus	RPIA	RGD	RGD:1311377

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