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Gene : HOGA1 Homo sapiens

Name  ? 4-hydroxy-2-oxoglutarate aldolase 1 Cytological Location  10q24.2
Brief Description  4-hydroxy-2-oxoglutarate aldolase 1
description  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]
  • synonyms:
  • HP3,
  • OTTHUMG00000018859,
  • NPL2,
  • uc001kny.4,
  • C10orf65,
  • dihydrodipicolinate synthase-like, mitochondrial,
  • DHDPSL,
  • HGNC:25155,
  • C10orf65,
  • DHDPS2,
  • DHDPSL,
  • N-acetylneuraminate pyruvate lyase 2 (putative),
  • FLJ37472,
  • BC011916,
  • chromosome 10 open reading frame 65,
  • dihydrodipicolinate synthetase homolog 2 (E. coli),
  • DHDPS2,
  • NM_138413,
  • NPL2,
  • HOGA1
  • identifiers:
  • 112817,
  • ENSG00000241935,
  • HOGA1

Genome feature

Region: gene ? Length: 28458  
Location: 10:97584345-97612802 Cyto location: 10q24.2


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Disease

1 Diseases

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Expression

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Other

285 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results