| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate. CATALYTIC ACTIVITY: Glycolate + NADP(+) = glyoxylate + NADPH. CATALYTIC ACTIVITY: D-glycerate + NAD(P)(+) = hydroxypyruvate + NAD(P)H. SUBUNIT: Homodimer. TISSUE SPECIFICITY: Ubiquitous. Most abundantly expressed in the liver. DISEASE: Defects in GRHPR are the cause of hyperoxaluria primary type 2 (HP2) [MIM:260000]; also known as primary hyperoxaluria type II (PH2). HP2 is a disorder where the main clinical manifestation is calcium oxalate nephrolithiasis though chronic as well as terminal renal insufficiency has been described. It is characterized by an elevated urinary excretion of oxalate and L- glycerate. SIMILARITY: Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. SEQUENCE CAUTION: Sequence=AAD54066.1; Type=Frameshift; Positions=109, 137; Sequence=AAG39286.1; Type=Frameshift; Positions=237; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GRHPR"; GENE SYNONYMS:GRHPR GLXR. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 328 AA; 35668 MW; 68A0E311AA4E5650 CRC64;
|
| biopax3:xref | |
| biopax3:displayName |
GRHPR_HUMAN
|
| biopax3:name |
1.1.1.79,
1.1.1.81,
GRHPR
|
| biopax3:organism | |
| biopax3:sequence |
MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLSDHVDKRILDAAGANLKVISTMSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHIGSATHRTRNTMSLLAANNLLAGLRGEPMPSELKL
|
| biopax3:standardName |
Glyoxylate reductase/hydroxypyruvate reductase
|