Glyoxylate Reductase/Hydroxypyruvate Reductase

Alternative Names

GRHPR
GLXR

Length

16,518 bases

No. of Exons

No. of isoforms

Protein Name

Glyoxylate reductase/hydroxypyruvate reductase

Molecular Mass

35668 Da

Amino Acid Count

328

Genomic Location

chr9:37,422,434-37,438,951

Gene Map Locus

9p13.2

Description

This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_012203.2:c.344C>A	Lebanon	chr9:37426594		Likely Pathogenic	Hyperoxaluria, Primary, Type II	NG_008135.1:g.8885C>A; NM_012203.2:c.344C>A; NP_036335.1:p.Ala115Glu

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHPR https://www.ncbi.nlm.nih.gov/gene/9380

Contributors

Pratibha Nair: 06.12.2020

Edit History

Pratibha Nair: 06.12.2020

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