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Gene : ALDH5A1 Homo sapiens

Name  ? aldehyde dehydrogenase 5 family member A1 Cytological Location  6p22.3
Brief Description  aldehyde dehydrogenase 5 family member A1
Description  This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • SSADH,
  • uc003neg.4,
  • NM_001080,
  • aldehyde dehydrogenase 5 family, member A1,
  • HGNC:408,
  • succinate-semialdehyde dehydrogenase,
  • SSDH,
  • OTTHUMG00000014356,
  • SSADH,
  • L34820,
  • SSDH,
  • ALDH5A1
  • identifiers:
  • 7915,
  • ENSG00000112294,
  • ALDH5A1

Genome feature

Region: gene ? Length: 42239  
Location: 6:24494969-24537207 Cyto location: 6p22.3

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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3740 SNPs

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results