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Gene : ALDH6A1 Homo sapiens

Name  ? aldehyde dehydrogenase 6 family member A1 Cytological Location  14q24.3
Brief Description  aldehyde dehydrogenase 6 family member A1
description  This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
  • synonyms:
  • malonate-semialdehyde dehydrogenase (acetylating),
  • ALDH6A1,
  • MMSDH,
  • aldehyde dehydrogenase 6 family, member A1,
  • MMSDH,
  • NM_001278593,
  • M93405,
  • MMSADHA,
  • HGNC:7179,
  • uc001xpo.5,
  • OTTHUMG00000171203
  • identifiers:
  • 4329,
  • ENSG00000119711,
  • ALDH6A1

Genome feature

Region: gene ? Length: 26832  
Location: 14:74057662-74084493 reverse strand Cyto location: 14q24.3


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Disease

1 Diseases

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961 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results