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Gene : ALDH4A1 Homo sapiens

Name  ? aldehyde dehydrogenase 4 family member A1 Cytological Location  1p36.13
Brief Description  aldehyde dehydrogenase 4 family member A1
description  This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
  • synonyms:
  • ALDH4,
  • P5CDh,
  • OTTHUMG00000002443,
  • P5CD,
  • ALDH4,
  • P5CDh,
  • NM_001161504,
  • aldehyde dehydrogenase 4 family, member A1,
  • HGNC:406,
  • ALDH4A1,
  • U24266,
  • Delta-1-pyrroline-5-carboxylate dehydrogenase,
  • L-glutamate gamma-semialdehyde dehydrogenase,
  • uc001bbc.4
  • identifiers:
  • 8659,
  • ENSG00000159423,
  • ALDH4A1

Genome feature

Region: gene ? Length: 31370  
Location: 1:18871430-18902799 reverse strand Cyto location: 1p36.13


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1 Diseases

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525 SN Ps

5 Cross References

19 Data Sets

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0 Located Features

90 Rna Seq Results