QuickView for Aldh5a1 (gene)

Gene Symbol:

ALDH5A1 Homo sapiens

Full name:

aldehyde dehydrogenase 5 family member A1

Synonyms:

SSADH, SSDH, succinate-semialdehyde dehydrogenase, mitochondrial, NAD(+)-dependent succinic semialdehyde dehydrogenase, mitochondrial succinate semialdehyde dehydrogenase

Genomic Location:

Chr 6: 24603176-24645414

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, physiol...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

OCT1_05 ,  TACTTGA_MIR26A_MIR26B ,  CEBP_Q3

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-133 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-26

Cytogenetic Map:

6p22.3

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