ALDH5A1

(Aldehyde dehydrogenase 5 family, member A1)

 

  • Alias                                 (According to NCBI)

 
  • SSADH 
  • SSDH 
  • NAD(+)-dependent succinic semialdehyde dehydrogenase 
  • NAD+-dependent succinic semialdehyde dehydrogenase 
  • aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) 
  • mitochondrial succinate semialdehyde dehydrogenase 
  • Succinate semialdehyde dehydrogenase, mitochondrial precursor (EC 1.2.1.24) (NAD(+)-dependent
    succinic semialdehyde dehydrogenase).
  • 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.
  • Location: 6p22.2-p22.3
  • Orientation: plus strand
  • Size: 42239 bp
  • 11  exons
  • DNA sequence (Human): NC_000006.

  • CGH (6p22.2-p22.4):  Losses (%) -3.8   Gain (%)  0.0   Amplifications  0.0
  • Mutations and SNPs (According to HGMD and SNP)

 
  • m-RNA                       (According to NCBI and CGAP)

 

                               
  • Pathways and interactions (According to BioCarta, DIP)

  • Protein interactions:

  • Clinical                            (According to OMIM, PubMed)