HOGA1

4-hydroxy-2-oxoglutarate aldolase 1

Summary

The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]

Known Variants394 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1241626710:99,343,921A/G—benign
rs19229633510:99,344,075A/G—likely benign
rs4130998810:99,344,182G/A—likely benign
rs117616256410:99,344,237G/A—uncertain significance
rs52994037310:99,344,462T/G—pathogenic
rs213571116910:99,344,463G/T—pathogenic
rs125233276010:99,344,469T/C—likely benign
rs158989913510:99,344,478C/T—likely benign
rs11673171110:99,344,480G/C—uncertain significance
rs213571122210:99,344,490G/A—likely benign
rs77869629510:99,344,493G/T—uncertain significance
rs20012725510:99,344,499G/A—conflicting classifications of pathogenicity
rs77176633510:99,344,501T/A—uncertain significance
rs213571124210:99,344,502A/G—likely benign
rs74671223610:99,344,511C/T—likely benign
rs254006033810:99,344,514G/A—likely benign
rs204095324010:99,344,523T/C—likely benign
rs142551823210:99,344,524G/A—uncertain significance
rs146392687410:99,344,526G/A—likely benign
rs254006038410:99,344,529G/A—likely benign
rs126751291610:99,344,535G/A—pathogenic
rs76778647410:99,344,540C/T—uncertain significance
rs77581936510:99,344,541A/G—likely benign
rs76427414910:99,344,545G/T—pathogenic
rs75397073310:99,344,548G/A—uncertain significance
rs75979575810:99,344,549G/T—uncertain significance
rs156475363910:99,344,550G/A—likely benign
rs75833964510:99,344,563A/G—uncertain significance
rs57329246010:99,344,566G/A—uncertain significance
rs20180398610:99,344,567C/Tmissense variantpathogenic
rs74779534110:99,344,568G/A—likely benign
rs77272292510:99,344,570G/A—pathogenic
rs213571133310:99,344,571T/C—likely benign
rs213571133910:99,344,574C/T—likely benign
rs74641948910:99,344,577C/Tsynonymous variantlikely benign
rs117327098310:99,344,579C/A—uncertain significance
rs77256407110:99,344,589C/T—likely benign
rs76100938310:99,344,592C/T—likely benign
rs138091847210:99,344,593C/G—likely pathogenic
rs76439656410:99,344,594C/Tmissense variantpathogenic
rs122144466110:99,344,599A/C—uncertain significance
rs134722199310:99,344,613G/T—uncertain significance
rs79605209110:99,344,618——pathogenic
rs254006061610:99,344,622T/C—likely benign
rs213571140610:99,344,625G/A—likely benign
rs14199340210:99,344,628A/G—likely benign
rs213571141010:99,344,629C/T—likely benign
rs213571141210:99,344,634G/A—likely benign
rs254006064610:99,344,640T/C—likely benign
rs15081255610:99,344,645A/T—conflicting classifications of pathogenicity
rs127767625110:99,344,650C/G—uncertain significance
rs36919199210:99,344,660T/G—uncertain significance
rs75050740110:99,344,661C/T—likely benign
rs254006069510:99,344,666T/G—likely pathogenic
rs134506110210:99,344,667C/T—likely benign
rs75830453710:99,344,668C/Tstop gainedpathogenic
rs26760676310:99,344,669G/Amissense variantuncertain significance
rs254006071210:99,344,675A/G—uncertain significance
rs94801572210:99,344,683T/G—likely benign
rs37251791210:99,344,685T/G—likely benign
rs78106835410:99,344,686C/T—likely benign
rs55242063110:99,344,691G/T—likely benign
rs254006629910:99,349,951G/T—uncertain significance
rs56039114010:99,357,354C/G——
rs791381210:99,357,631T/G——
rs7974871010:99,358,193A/T—benign
rs1181773010:99,358,511G/A—likely benign
rs158990758610:99,358,523C/G—conflicting classifications of pathogenicity
rs37206647310:99,358,526T/C—conflicting classifications of pathogenicity
rs120910501710:99,358,531G/A—likely pathogenic
rs204109020810:99,358,532G/T—likely pathogenic
rs75131351410:99,358,533C/T—likely benign
rs78060671510:99,358,536C/T—likely benign
rs79605208410:99,358,541T/Gmissense variantpathogenic
rs79605208810:99,358,547G/Amissense variantpathogenic
rs213572133310:99,358,551C/T—likely benign
rs76913784310:99,358,554T/A—conflicting classifications of pathogenicity
rs14809418010:99,358,557C/T—conflicting classifications of pathogenicity
rs77244188710:99,358,558G/T—pathogenic
rs14183186610:99,358,560G/A—likely benign
rs77662832510:99,358,571T/C—likely pathogenic
rs213572136810:99,358,575C/T—likely benign
rs116720934010:99,358,580G/C—uncertain significance
rs76516049310:99,358,586G/A—likely pathogenic
rs37322622810:99,358,589T/A—uncertain significance
rs76296885310:99,358,590C/T—likely benign
rs213572139510:99,358,599G/A—likely benign
rs75136689510:99,358,603C/T—uncertain significance
rs75463469910:99,358,604G/A—likely benign
rs254007416210:99,358,608G/A—likely benign
rs26760676210:99,358,609C/Tmissense variantpathogenic
rs75225234310:99,358,610G/A—pathogenic
rs254007416710:99,358,611C/T—likely benign
rs77720895810:99,358,614G/A—likely benign
rs127879465210:99,358,616C/T—uncertain significance
rs20163014410:99,358,619T/C—conflicting classifications of pathogenicity
rs254007418610:99,358,625A/T—uncertain significance
rs79605208910:99,358,628A/Tmissense variantpathogenic
rs77256625410:99,358,629C/T—likely benign
rs77691237010:99,358,635C/T—likely benign

Showing 100 of 394 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.