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- Table of Contents
Facts about Succinate-semialdehyde dehydrogenase, mitochondrial.
Human | |
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Gene Name: | ALDH5A1 |
Uniprot: | P51649 |
Entrez: | 7915 |
Belongs to: |
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aldehyde dehydrogenase family |
aldehyde dehydrogenase 5 family, member A1; EC 1.2.1; EC 1.2.1.24; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADHmitochondrial
Mass (kDA):
57.215 kDA
Human | |
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Location: | 6p22.3 |
Sequence: | 6; NC_000006.12 (24494969..24537207) |
Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Mitochondrion.
PMID: 9683595 by Chambliss K.L., et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
PMID: 12208142 by Blasi P., et al. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.