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Gene : ALDH18A1 Homo sapiens

Name  ? aldehyde dehydrogenase 18 family member A1 Cytological Location  10q24.1
Brief Description  aldehyde dehydrogenase 18 family member A1
description  This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ALDH18A1,
  • ARCL3A,
  • SPG9B,
  • spastic paraplegia 9 (autosomal dominant),
  • P5CS,
  • X94453,
  • SPG9,
  • SPG9,
  • P5CS,
  • HGNC:9722,
  • PYCS,
  • GSAS,
  • NM_002860,
  • pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase),
  • GSAS,
  • SPG9A,
  • aldehyde dehydrogenase 18 family, member A1,
  • uc001kkz.4,
  • OTTHUMG00000018815,
  • ADCL3,
  • PYCS
  • identifiers:
  • 5832,
  • ENSG00000059573,
  • ALDH18A1

Genome feature

Region: gene ? Length: 50973  
Location: 10:95605929-95656901 reverse strand Cyto location: 10q24.1


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Disease

4 Diseases

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Expression

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2011 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results